Introdução
O que você precisa saber de cara
Visão geral
A Alteração da absorção e transporte de carboidratos é uma condição rara que afeta a forma como o corpo processa e utiliza os carboidratos dos alimentos. Isso pode levar a uma série de problemas de desenvolvimento e neurológicos, que variam de pessoa para pessoa. A condição é conhecida internacionalmente como "Disorder of carbohydrate absorption and transport".[1][2]
Sinais e sintomas
Os sinais e sintomas podem ser muito variados e afetar diferentes partes do corpo. Entre os mais comuns estão atrasos no desenvolvimento, como dificuldade para andar e atraso global profundo do desenvolvimento. Problemas neurológicos também são frequentes, incluindo apraxia da fala (dificuldade em coordenar os movimentos para falar), crises epilépticas de início focal, discinesia (movimentos involuntários), e apneia central do sono (pausas na respiração durante o sono). Alterações na estrutura do corpo podem incluir tórax estreito ou curto, sobrancelhas largas e baixa estatura. Algumas pessoas podem apresentar hirsutismo dorsal (excesso de pelos nas costas) e flapping de mãos recorrente (movimentos repetitivos das mãos).[1][2]
Causas genéticas
A Alteração da absorção e transporte de carboidratos é uma condição genética, o que significa que é causada por alterações (mutações) em genes específicos. Os genes atualmente associados a esta condição incluem: PIDD1, EXOSC3, ZC3H14, VRK1, SI, AIMP1, ST3GAL3, NSUN2, EDC3, TUSC3, TNIK e ALKBH8. Cada um desses genes fornece instruções para a produção de proteínas que desempenham papéis importantes em diferentes processos celulares, incluindo o processamento de carboidratos e o funcionamento do sistema nervoso.[1][3]
Diagnóstico
O diagnóstico é geralmente suspeitado com base nos sinais e sintomas clínicos e pode ser confirmado por meio de testes genéticos. Atualmente, existem 336 testes genéticos disponíveis para esta condição, e 234 variantes genéticas diferentes já foram registradas no ClinVar, um banco de dados público que relaciona variantes genéticas a fenótipos. O código da doença no MONDO (uma ontologia de doenças) é MONDO:0017706.[1][3]
Tratamento e manejo
Não há informações disponíveis sobre tratamentos ou medicamentos específicos aprovados para esta condição. O manejo é geralmente focado em aliviar os sintomas e melhorar a qualidade de vida, podendo incluir terapias de suporte como fisioterapia, fonoaudiologia e acompanhamento neurológico. É importante consultar uma equipe médica especializada para discutir as melhores opções de cuidado para cada caso.[1]
Prognóstico e qualidade de vida
Não há informações específicas sobre o prognóstico a longo prazo para esta condição. O impacto na qualidade de vida pode variar amplamente dependendo da gravidade dos sintomas e do acesso a cuidados de suporte adequados. O acompanhamento regular com uma equipe multidisciplinar é fundamental para gerenciar os desafios e promover o bem-estar.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A **alteração da absorção e transporte de carboidratos** é um grupo de condições clínicas raras caracterizado por falhas no modo como o organismo absorve ou transporta açúcares. As manifestações observadas podem envolver desde dificuldades alimentares e **baixa estatura** até problemas neurológicos, como atraso no desenvolvimento e crises convulsivas. Não há uma cura definitiva ou medicação única aprovada para a categoria como um todo, sendo o manejo focado no acompanhamento clínico e nutricional dos sintomas. No Brasil, a condição não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde, devendo o paciente receber assistência pela rede geral do SUS.
Doença rara com manifestações neurológicas (apraxia da fala, apneia central do sono, crises epilépticas), alterações torácicas e faciais, e problemas de coagulação. Associada a mutações em genes como PIDD1 e EXOSC3, impactando a absorção e transporte de carboidratos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 224 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 541 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
72 genes identificados com associação a esta condição.
Pontocerebellar hypoplasia 1B
A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.
Intellectual developmental disorder, autosomal recessive 56
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Pontocerebellar hypoplasia 1A
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1A is an autosomal recessive form characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth.
Congenital sucrase-isomaltase deficiency
Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.
Leukodystrophy, hypomyelinating, 3
A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system.
Intellectual developmental disorder, autosomal recessive 12
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 5
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 50
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT50 patients show mild intellectual disability and microcephaly.
Intellectual developmental disorder, autosomal recessive 7
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 54
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity.
Intellectual developmental disorder, autosomal recessive 71
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities.
Intellectual developmental disorder, autosomal recessive 57
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features.
Intellectual developmental disorder, autosomal recessive 47
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT47 patients show delayed development, with cognition and speech more affected than motor skills.
Intellectual developmental disorder, autosomal recessive 51
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal dominant 67
An autosomal dominant disorder characterized by global development delay and impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, and language and sleeping difficulties.
Intellectual developmental disorder, autosomal recessive 14
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Joubert syndrome 25
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive.
Intellectual developmental disorder, autosomal recessive 13
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals.
Congenital glucose/galactose malabsorption
Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.
Neurodevelopmental disorder with infantile epileptic spasms
An autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging.
Hypermethioninemia due to adenosine kinase deficiency
A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal.
Intellectual developmental disorder, autosomal recessive 73
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features.
Congenital lactase deficiency
Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
Intellectual developmental disorder, autosomal recessive 1
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 81
An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities.
Intellectual developmental disorder, autosomal recessive 27
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Neurodegeneration, childhood-onset, with cerebellar atrophy
An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.
Intellectual developmental disorder, autosomal recessive 83
An autosomal recessive disorder characterized by developmental delay, mild to moderate intellectual disability, and poor or absent speech. Additional variable features include seizures, hearing impairment, hypotonia, and non-specific facial dysmorphism.
Pontocerebellar hypoplasia 1D
An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur.
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities
An autosomal recessive disorder characterized by global developmental delay, developmental regression, variably impaired intellectual development with poor or absent speech, difficulty walking or inability to walk, and various movement abnormalities, including spasticity, hypertonia, dystonia, tremor, and myoclonus. Affected individuals usually show poor overall growth, often with microcephaly, hypotonia, limb contractures, and cataracts.
Intellectual developmental disorder, autosomal recessive 82
An autosomal recessive disorder characterized by developmental delay, motor and speech delay, intellectual disability, and behavioral anomalies.
Intellectual developmental disorder, autosomal recessive 72
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.
Intellectual developmental disorder, autosomal recessive 60
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly.
Intellectual developmental disorder, autosomal recessive 65
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT65 patients have moderate to severe intellectual disability, developmental delay, and facial dysmorphism. Camptodactyly is present in some patients.
Intellectual developmental disorder, autosomal recessive 70
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities.
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Neuropathy, hereditary motor and sensory, 6B, with optic atrophy
An autosomal recessive neurologic disorder characterized by early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.
Pontocerebellar hypoplasia 1C
A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired.
Intellectual developmental disorder, autosomal recessive 2
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT2 patients display mild intellectual disability with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features.
Glycosylphosphatidylinositol biosynthesis defect 16
An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures.
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur.
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly
A disorder characterized by mild to moderate intellectual disability, megalencephaly or enlarged head circumference, and a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures.
Intellectual developmental disorder, autosomal recessive 44
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.
Intellectual developmental disorder, autosomal recessive 59
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 67
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRT67 patients manifest seizures and sensorineural hearing loss.
Al-Raqad syndrome
A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay.
Hyperlipoproteinemia 1B
Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.
Intellectual developmental disorder, autosomal recessive 66
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span.
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non-specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment.
Intellectual developmental disorder with short stature and behavioral abnormalities
An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression.
Intellectual developmental disorder, autosomal recessive 6
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT6 patients display mild to severe intellectual disability and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal.
Intellectual developmental disorder, autosomal recessive 61
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients.
Salla disease
Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.
Trehalase deficiency
An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon.
Cataract 47
A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism.
Renal glucosuria
A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction.
Intellectual developmental disorder, autosomal recessive 68
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 64
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech.
Rafiq syndrome
An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern.
Intellectual developmental disorder, autosomal recessive 43
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Intellectual developmental disorder, autosomal recessive 46
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self-injurious behavior, and sleep disturbances.
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development, microcephaly, early-onset seizures, and movement abnormalities.
Intellectual developmental disorder, autosomal recessive 3
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Variantes genéticas (ClinVar)
234 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
152 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração da absorção e transporte de carboidratos
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Vanillin cross-linked chitosan gelatin membrane for potential hemodialysis applications.
End-stage renal disease (ESRD) causes the buildup of metabolic waste in the body, requiring hemodialysis to replace the kidneys' filtering function. The main challenge in hemodialysis is the membrane's effectiveness, which is often limited by hemocompatibility issues. Therefore, improving membrane materials to enhance hemocompatibility and remove uremic toxins remains a key focus of research. In this study, we used modified natural polymers as materials for hemodialysis membranes. Our goal was to develop chitosan (Cs)-based membranes crosslinked with vanillin (Va) and blended with gelatin (Gel) to improve morphology, transport performance, and hemocompatibility. The membrane showed increased porosity at 78.21%, a higher swelling capacity of 36%, and improved water absorption at 89.63%. It also enhanced the transport of creatinine by 92.35% and urea by 61.01%, while demonstrating an enhanced hydrophilicity of 45.89%. Hemocompatibility tests showed significant improvements, including reduced platelet adhesion, lower hemolysis rates (<2%), and prolonged clotting times compared to unmodified Cs membranes, confirming enhanced blood compatibility. These results position the chitosan/vanillin/gelatin (CVG) membrane as a promising candidate for effective hemodialysis applications.
PPAR-γ Activation Alleviates Intestinal Dysfunction and Lactose Malabsorption in Experimental Food Allergy Rats.
Food allergy-induced intestinal inflammation can impair lactose digestion and absorption by damaging the epithelium, leading to secondary lactase deficiency with no effective treatments. The immunometabolism nuclear receptor PPAR-γ regulates gut epithelial function and nutrient absorption. This study aimed to determine whether PPAR-γ activation can preserve lactose digestion and absorption during allergic inflammation and to elucidate the underlying mechanisms. In an ovalbumin-sensitized Brown Norway rat model of food allergy, animals were treated with either the PPAR-γ agonist rosiglitazone or the antagonist GW9662. Lactose absorption was assessed by in vivo lactose tolerance tests (blood glucose monitoring) and intestinal transit measurements. Jejunal tissues were analyzed for lactase gene expression, lactase enzyme activity, and SGLT1/GLUT2 transporter levels. Allergic rats exhibited reduced weight gain, delayed intestinal transit, and lactose malabsorption (lower blood glucose after lactose challenge), accompanied by sharply decreased jejunal lactase mRNA, enzyme activity, and SGLT1/GLUT2 levels. Rosiglitazone treatment restored intestinal PPAR-γ expression and markedly improved lactose absorption, normalizing the lactose tolerance curve. Rosiglitazone also increased lactase gene expression and enzyme activity, and upregulated SGLT1 levels. In contrast, PPAR-γ inhibition with GW9662 further reduced lactase and transporter levels and failed to improve absorption. PPAR-γ signaling maintains intestinal lactose digestive capacity of rats during allergic inflammation by sustaining lactase production and monosaccharide transporter expression. Our findings verify an immunometabolism mechanism linking nuclear receptor activation to enhanced nutrient absorption and highlight PPAR-γ agonism as a promising therapeutic strategy to alleviate food allergy-associated lactose malabsorption.
Alternative methods for pharmacological research on the action mechanisms of natural products used in the treatment of type 2 diabetes: a systematic review.
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Epithelial ion transport in spring-lengthened jejunum in a porcine model.
Effect of proinflammatory cytokines on intestinal drug transporters in human enteroid monolayers.
Assessment of distinct effects of Parinari curatellifolia Planch.ex Benth Ethanolic leaf extract on glucose transport in different cell types.
β-Glucan-based superabsorbent hydrogel ameliorates obesity-associated metabolic disorders via delaying gastric emptying, improving intestinal barrier function, and modulating gut microbiota.
Major facility superfamily sugar transporter protein SsMFSST1 regulates Sporisorium scitamineum mating, pathogenicity, and sugar transport/absorption.
📚 EuropePMCmostrando 200
Novel anti-rheumatic potential of Eucalrobusone C: inhibition of rheumatoid arthritis fibroblast-like synoviocytes and metabolic reprogramming.
Artificial cells, nanomedicine, and biotechnologyVanillin cross-linked chitosan gelatin membrane for potential hemodialysis applications.
International journal of biological macromoleculesPPAR-γ Activation Alleviates Intestinal Dysfunction and Lactose Malabsorption in Experimental Food Allergy Rats.
NutrientsAlternative methods for pharmacological research on the action mechanisms of natural products used in the treatment of type 2 diabetes: a systematic review.
Frontiers in pharmacologyOvercoming mucus trapping by engineering PEGylated self-nanoemulsions for enhanced oral absorption of a novel AMPK activator.
International journal of pharmaceuticsTranscriptomics reveals the temporal responses of sea cucumber (Apostichopus japonicus) to the challenge by bacterial peptidoglycans.
Comparative biochemistry and physiology. Part D, Genomics & proteomicsHighly Ca2+-permeable transient receptor potential vanilloid 6 contributes to the protection against colitis by regulating epithelial barrier function.
American journal of physiology. Gastrointestinal and liver physiologyEpithelial ion transport in spring-lengthened jejunum in a porcine model.
Journal of pediatric surgeryEffect of proinflammatory cytokines on intestinal drug transporters in human enteroid monolayers.
Drug metabolism and disposition: the biological fate of chemicalsMechanisms and Repair of Skin Barrier Dysfunction: The TLC Strategy.
International journal of dermatologyFlax lignan-fortified nanoemulsions potentiate the conversion of α-linolenic acid to n-3 LCPUFAs: cumulative metabolic patterns in non-fasting mice.
Food & functionLacticaseibacillus rhamnosus alleviates hyperuricemia by restricting intestinal nucleoside absorption.
Food & functionChitosan-Derived Carbon Dots Enhance Root Rot Resistance in Isatis Tinctoria L. by Enhancing Plant Defense Responses.
Small (Weinheim an der Bergstrasse, Germany)Spermidine Prevents Polarity Loss of Absorptive Enterocytes in Jejunum of Lipopolysaccharide-Challenged Mice via 4D-DIA Proteomics Analysis.
Journal of proteome researchAssessment of distinct effects of Parinari curatellifolia Planch.ex Benth Ethanolic leaf extract on glucose transport in different cell types.
PeerJAntihyperuricemic Effects of Cornus officinalis Extract via URAT1 Regulation and Renoprotective Mechanisms.
International journal of molecular sciencesFactors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols.
Current atherosclerosis reportsA 3D microfluidic model for preclinical drug permeation studies: Advancing validation of skin-on-chip technology.
Journal of pharmaceutical and biomedical analysisOral Administration of Trifluoroacetyl Chitosan-Encapsulated Redshifted Immunofluorophore for NIR-II Bioimaging of Colorectal Metastases.
Advanced healthcare materialsFunctional and morphological characterisation of human colonoid-derived monolayers under inflammatory conditions.
International journal of pharmaceuticsGlucose transports in the ileum: mechanism, regulation and physiological role of ileal glucose absorption.
Biochemical and biophysical research communicationsPathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.
Journal of inherited metabolic diseasePopulation Pharmacokinetic Modeling of Canagliflozin in Advanced Chronic Kidney Disease.
Clinical pharmacokineticsSotagliflozin Reduces Glucose Absorption and Improves Ultrafiltration in a Rat Model of Chronic Peritoneal Exposure to High-Glucose Dialysate.
Blood purificationBiopharmaceutical Factors Involved in the Disposition of Mycophenolic Acid: A Comprehensive Review of ADME Properties and Their Potential Impact on Mycophenolic Acid Plasma Exposure.
Current drug metabolismThe Adipose Tissue-Derived Secretome (ADS) in Obesity Uniquely Regulates the Na-Glucose Transporter SGLT1 in Intestinal Epithelial Cells.
CellsRosuvastatin PBPK Modeling: Incorporating Liver Concentrations and Effects of Ethnicity, Genetic Polymorphisms, Lactone Formation, DDI and Pregnancy.
CPT: pharmacometrics & systems pharmacologyIsolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.
Journal of clinical lipidologyHigh-Fructose-Induced Salt-Sensitive Hypertension: The Potential Benefit of SGLT4 or SGLT5 Modulation.
NutrientsA novel exploration of the extraction of sea cucumber glycoproteins and their potential mechanism in prediabetes intervention.
Food research international (Ottawa, Ont.)Aloe vera polysaccharides mitigate high-fat high-cholesterol diet-induced atherosclerosis in ApoE-/- mice via regulation of lipid metabolism and gut microbiota.
Food & functionSitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.
Journal of clinical lipidologyA new link between insulinoma and congenital glucose-galactose malabsorption.
Endocrine oncology (Bristol, England)Unlocking the Potential of Sotagliflozin in Diabetes Mellitus targeting SGLT 1 & SGLT 2: A Comprehensive Review.
Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiologySustained release of betamethasone from solid lipid nanoparticles loaded polymeric hydrogels with natural emollient: One step closer to effective topical therapy for atopic dermatitis.
Journal of pharmaceutical sciencesCharacteristics and Functions of Different Intestinal Segments in Juvenile Greater Amberjack (Seriola dumerili).
Animals : an open access journal from MDPIThe Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.
GenesGly-βMCA modulates bile acid metabolism to reduce hepatobiliary injury in Mdr2 KO mice.
American journal of physiology. Gastrointestinal and liver physiologyPharmacokinetics and pharmacodynamics of empagliflozin in paediatric patients aged 10-17 years with type 2 diabetes mellitus.
British journal of clinical pharmacologyIntegrated transcriptomics and metabolomics unravel the key metabolic pathways involved in the therapeutic mechanism of Salvianic acid A against hepatic fibrosis.
Toxicology and applied pharmacologyCinnamaldehyde enhances the intervention effect of puerarin on stroke from the perspectives of pharmacokinetics and pharmacodynamics.
European journal of pharmacologyEpigallocatechin gallate prevents and alleviates type 2 diabetes mellitus (T2DM) through gut microbiota and multi-organ interactions in Wistar healthy rats and GK T2DM rats.
Journal of advanced researchImpact of tailored dietary interventions on suspected carbohydrate intolerance patients based on genetic testing.
Nutricion hospitalariaCanagliflozin: A Comprehensive Review of Advances in Preclinical Research.
Drug researchImpact of SGLT2 Inhibitors on Magnesium in Kidney Transplant Patients with and Without Diabetes.
International journal of molecular sciencesExpression, Function, and Regulation of ABCG2 on the Intestinal Epithelial Barrier Permeability.
Current drug metabolismCritical Importance of Iron Saturation in Lactoferrin: Effects on Biological Activity, Nutritional Functions, and Applications.
Journal of agricultural and food chemistryASK1 limits kidney glucose reabsorption, growth, and mid-late proximal tubule KIM-1 induction when diabetes and Western diet are combined with SGLT2 inhibition.
American journal of physiology. Renal physiologySulfo-N-Succinimidyl Oleate Sodium as CD36 Inhibitor: Dose Optimization and Its Effects on FFA Uptake, Inflammation, and ER Stress in HepG2 Cells.
Journal of biochemical and molecular toxicologyHypothyroidism impairs the circadian rhythmicity of clock genes and proteins involved in gut nutrient absorption in female mice.
Frontiers in physiologyIntestinal Gastrin/CCKBR Axis Protects against Type 2 Diabetes by Reducing Intestinal Glucose Absorption through the PI3K/Akt/eIF4B Signaling Pathway.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Apabetalone alleviates ligature-induced periodontitis by inhibiting M1 macrophage polarization via an immunometabolic shift.
International immunopharmacologyβ-Glucan-based superabsorbent hydrogel ameliorates obesity-associated metabolic disorders via delaying gastric emptying, improving intestinal barrier function, and modulating gut microbiota.
International journal of biological macromoleculesHigh fructose rewires gut glucose sensing via glucagon-like peptide 2 to impair metabolic regulation in mice.
Molecular metabolismThe impact of solute carrier proteins on disrupting substance regulation in metabolic disorders: insights and clinical applications.
Frontiers in pharmacologyProtein abundance of drug transporters and drug-metabolizing enzymes in paired healthy and tumor tissue from colorectal cancer patients.
International journal of pharmaceuticsImproving Understanding of Fexofenadine Pharmacokinetics to Assess Pgp Phenotypic Activity in Older Adult Patients Using Population Pharmacokinetic Modeling.
Clinical pharmacokineticsMajor facility superfamily sugar transporter protein SsMFSST1 regulates Sporisorium scitamineum mating, pathogenicity, and sugar transport/absorption.
Microbiology spectrumNanoencapsulation of vitamin B2 using chitosan-modified poly(lactic-co-glycolic acid) nanoparticles: Synthesis, characterization, and in vitro studies on simulated gastrointestinal stability and delivery.
Journal of food scienceAn oral liraglutide nanomicelle formulation conferring reduced insulin-resistance and long-term hypoglycemic and lipid metabolic benefits.
Journal of controlled release : official journal of the Controlled Release SocietyConversion of α-linolenic acid into n-3 long-chain polyunsaturated fatty acids: bioavailability and dietary regulation.
Critical reviews in food science and nutritionRegulation of lipid storage and inflammation in the liver by CEACAM1.
European journal of clinical investigationAn Amorphous Solid Dispersion of Baicalin and its Oral Therapeutic Effect on Ulcerative Colitis.
Pharmaceutical researchGinsenoside Rb1 affects mitochondrial Ca2+ transport and inhibits fat deposition and fibrosis by regulating the wnt signaling pathway to treat rotator cuff tears via docking with SFRP1.
Molecular medicine (Cambridge, Mass.)Capturing ultrafast energy flow of a heme protein in crowded milieu.
Physical chemistry chemical physics : PCCPIdentification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.
Journal of clinical lipidologyRole of Gpcpd1 in intestinal alpha-glycerophosphocholine metabolism and trimethylamine N-oxide production.
The Journal of biological chemistryIntestinal transport of organic food compounds and drugs: A scoping review on the alterations observed in chronic kidney disease.
Clinical nutrition ESPENLactobacillus gasseri BNR17 and Limosilactobacillus fermentum ABF21069 Ameliorate High Sucrose-Induced Obesity and Fatty Liver via Exopolysaccharide Production and β-oxidation.
Journal of microbiology (Seoul, Korea)ATP-binding cassette transporter TaABCG2 contributes to Fusarium head blight resistance by mediating salicylic acid transport in wheat.
Molecular plant pathologyCarnitine traffic and human fertility.
Biochemical pharmacologyEvaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.
Journal of clinical lipidologyThe pharmacokinetics of dabigatran in a rat model of hyperlipidaemia induced by poloxamer 407.
Xenobiotica; the fate of foreign compounds in biological systemsBacterial lipopolysaccharide inhibits free thiamin uptake along the intestinal tract via interference with membrane expression of thiamin transporters 1 and 2.
American journal of physiology. Cell physiologyProtective effect of walnut active peptide against dextran sulfate sodium-induced colitis in mice based on untargeted metabolomics.
International immunopharmacologyHighly Potent and Intestine Specific P-Glycoprotein Inhibitor to Enable Oral Delivery of Taxol.
Angewandte Chemie (International ed. in English)Nuclear Receptor Corepressors NCOR1 and SMRT Regulate Metabolism via Intestinal Regulation of Carbohydrate Transport.
EndocrinologyPlasma, brain and spinal cord concentrations of caffeine are reduced in the SOD1G93A mouse model of amyotrophic lateral sclerosis following oral administration.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.VIntestinal fructose transporters GLUT5 and GLUT2 in children and adolescents with obesity and metabolic disorders.
Advances in medical sciencesCan one long peritoneal dwell with icodextrin replace two short dwells with glucose?
Frontiers in physiologySucrose Solution Ingestion Exacerbates Dinitrofluorobenzene-Induced Allergic Contact Dermatitis in Rats.
NutrientsMitochondria UPR stimulation by pelargonidin-3-glucoside contributes to ameliorating lipid accumulation under copper exposure.
The Science of the total environmentLate diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia.
International journal of laboratory hematologyOral sericin ameliorates type 2 diabetes through passive intestinal and bypass transport into the systemic circulation.
Journal of ethnopharmacologyBrain-targeted Tet-1 peptide-PLGA nanoparticles for berberine delivery against STZ-induced Alzheimer's disease in a rat model: Alleviation of hippocampal synaptic dysfunction, Tau pathology, and amyloidogenesis.
International journal of pharmaceuticsDiet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.
The American journal of clinical nutritionGenetic causes of hypophosphatemia.
Minerva medicaThe inhibitory effects of endophytic metabolites on glycated proteins under non-communicable disease conditions: A review.
International journal of biological macromoleculesSGLT-2 Inhibitors: Focus on Dapagliflozin.
Cardiology in reviewAssociations of Dietary Cholesterol Consumption With Incident Diabetes and Cardiovascular Disease: The Role of Genetic Variability in Cholesterol Absorption and Disease Predisposition.
Diabetes careUnderstanding adefovir pharmacokinetics as a component of a transporter phenotyping cocktail.
European journal of clinical pharmacologyPlatelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.
Blood advancesMechanisms of Dangua Fang in multi-target and multi-method regulation of glycolipid metabolism based on phosphoproteomics.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panSporisorium reilianum polysaccharides improve DSS-induced ulcerative colitis by regulating intestinal barrier function and metabolites.
International journal of biological macromoleculesABCG2 polymorphisms and susceptibility to ARV-associated hepatotoxicity.
Molecular genetics & genomic medicineThe Role of Anthocyanins in Alleviating Intestinal Diseases: A Mini Review.
Journal of agricultural and food chemistryFamily sitosterolemia: report of two cases in Colombia.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisFunctional intestinal monolayers from organoids derived from human iPS cells for drug discovery research.
Stem cell research & therapyEffects of sodium-glucose co-transporter 2 inhibitors on ultrafiltration in patients with peritoneal dialysis: a protocol for a randomized, double-blind, placebo-controlled, crossover trial (EMPOWERED).
Clinical and experimental nephrologyEnhanced brain distribution of Ginsenoside F1 via intranasal administration in combination with absorption enhancers.
International journal of pharmaceuticsIdentification of phytocompounds as potent inhibitors of sodium/glucose cotransporter-2 leading to diabetes treatment.
Journal of biomolecular structure & dynamicsImportant nutrient sources and carbohydrate metabolism patterns in the growth and development of spargana.
Parasites & vectorsVitamin K (Menadione)-incorporated chitosan/alginate hydrogel as a novel product for periorbital hyperpigmentation.
Journal of biomaterials science. Polymer editionIncreased Intestinal Permeability and Decreased Resiliency of the Intestinal Barrier in Alcoholic Liver Disease.
Clinical and translational gastroenterologyTraditional Chinese Medicine formula Dai-Zong-Fang alleviating hepatic steatosis in db/db mice via gut microbiota modulation.
Frontiers in pharmacologyD-ribose metabolic disorder and diabetes mellitus.
Molecular biology reportsThe association of ABCB1 gene polymorphism with clinical response to carbamazepine monotherapy in patients with epilepsy.
Molecular biology reportsHydrogel-encapsulated medium chain lipid-modified zeolite imidazole framework-90 as a promising platform for oral delivery of proteins.
Journal of controlled release : official journal of the Controlled Release SocietyAn overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.
Cell communication and signaling : CCSA physiologically based toxicokinetic model of P-glycoprotein transporter-mediated placenta perfusion of dexamethasone in the pregnant rat.
Food and chemical toxicology : an international journal published for the British Industrial Biological Research AssociationA Model-Based 13C-Sucrose Breath Test Diagnostic for Gut Function Disorders Characterized by a Loss of Sucrase-Isomaltase Enzymatic Activity.
The Journal of nutritionTherapeutic effect of yinchenhao decoction on cholelithiasis via mucin in the gallbladder and intestine.
FitoterapiaIntegration of 16S rRNA gene sequencing and LC/MS-based metabolomic analysis of early biomarkers of acute ischaemic stroke in Tibetan miniature pigs.
Journal of microbiological methodsSGLT-2 Inhibitors: The Next-generation Treatment for Type 2 Diabetes Mellitus.
Current medicinal chemistrySynergistic effect of lactoferrin and osteopontin on intestinal barrier injury.
International journal of biological macromoleculesHigh-Carbohydrate Diet Consumption Poses a More Severe Liver Cholesterol Deposition than a High-Fat and High-Calorie Diet in Mice.
International journal of molecular sciencesPromoting oral absorption of Panax notoginseng saponins via thiolated trimethyl chitosan and wheat germ agglutinin-modified nanoformulation.
Drug delivery and translational researchBone marrow mesenchymal stem cells-derived exosomes mediated delivery of tetramethylpyrazine attenuate cerebral ischemic injury.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationSerum and urine metabolomics study revealed the amelioration of Gynura bicolor extract on high fat diet-fed and streptozotocin-induced type 2 diabetic mice based on UHPLC-MS/MS.
Journal of pharmaceutical and biomedical analysisProtective Effects of Melatonin in High-Fat Diet-Induced Hepatic Steatosis via Decreased Intestinal Lipid Absorption and Hepatic Cholesterol Synthesis.
Endocrinology and metabolism (Seoul, Korea)Development of canagliflozin nanocrystals sublingual tablets in the presence of sodium caprate permeability enhancer: formulation optimization, characterization, in-vitro, in silico, and in-vivo study.
Drug deliveryTaurocholate uptake by Caco-2 cells is inhibited by pro-inflammatory cytokines and butyrate.
CytokineAquaporin-4 Deficiency is Associated with Cognitive Impairment and Alterations in astrocyte-neuron Lactate Shuttle.
Molecular neurobiologyScreening of anti-functional dyspepsia compounds in Cynanchum auriculatum: A spectrum-effect relationship analysis, and ATP-binding cassette transporters inhibitor evaluation.
Journal of ethnopharmacologyDietary diosgenin transcriptionally down-regulated intestinal NPC1L1 expression to prevent cholesterol gallstone formation in mice.
Journal of biomedical scienceIn Vitro Interaction of Tetrahydrouridine with Key Human Nucleoside Transporters.
Journal of pharmaceutical sciencesMendelian randomisation reveals Sodium-glucose Cotransporter-1 inhibition's potential in reducing Non-Alcoholic Fatty Liver Disease risk.
European journal of endocrinologyEnhancing the Impact of Chemotherapy on Ewing Sarcoma Cells through Combination with Cold Physical Plasma.
International journal of molecular sciencesThe Role of Pharmacogenetics in Personalizing the Antidepressant and Anxiolytic Therapy.
GenesHigh Fructose Corn Syrup Accelerates Kidney Disease and Mortality in Obese Mice with Metabolic Syndrome.
BiomoleculesDownregulation of intestinal multidrug resistance transporter 1 in obese mice: Effect on its barrier function and role of TNF-α receptor 1 signaling.
Nutrition (Burbank, Los Angeles County, Calif.)The SWGEDWGEIW from Soybean Peptides Reduces Insulin Resistance in 3T3-L1 Adipocytes by Activating p-Akt/GLUT4 Signaling Pathway.
Molecules (Basel, Switzerland)The Influence of Alcohol Consumption on Intestinal Nutrient Absorption: A Comprehensive Review.
NutrientsAntioxidant effects of silver nanoparticles obtained by green synthesis from the aqueous extract of Eryngium carlinae on the brain mitochondria of streptozotocin-induced diabetic rats.
Journal of bioenergetics and biomembranesLinagliptin exacerbates heart failure due to energy deficiency via downregulation of glucose utilization and absorption in a mouse model.
European journal of pharmacologyDietary advanced glycation end products (dAGEs): An insight between modern diet and health.
Food chemistryCitric Acid Enhances the Activities of Astilbin on Psoriasis via Down-Regulation of P-Glycoprotein.
Molecular pharmaceuticsAbsorption and Transport Mechanism of Red Meat-Derived N-glycolylneuraminic Acid and Its Damage to Intestinal Barrier Function through the NF-κB Signaling Pathway.
ToxinsOral Exposure to Polystyrene Microplastics of Mice on a Normal or High-Fat Diet and Intestinal and Metabolic Outcomes.
Environmental health perspectives[Evaluation and Clarification of Enterohepatic Interactions in Pharmacokinetics].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanFerulic acid supplementation alleviates hyperuricemia in high-fructose/fat diet-fed rats via promoting uric acid excretion and mediating the gut microbiota.
Food & functionDrug-drug interactions associated with FLT3 inhibitors for acute myeloblastic leukemia: current landscape.
Expert review of clinical pharmacologyBile acids and microbes in metabolic disease.
World journal of gastroenterologyFibroblast growth factor 21 as a potential master regulator in metabolic disorders.
American journal of physiology. Endocrinology and metabolismEnhancing Mechanisms of the Plant Growth-Promoting Bacterial Strain Brevibacillus sp. SR-9 on Cadmium Enrichment in Sweet Sorghum by Metagenomic and Transcriptomic Analysis.
International journal of environmental research and public healthCarbohydrate malabsorption in anorexia nervosa: a systematic review.
Journal of eating disordersActivating transcription factor 3, glucolipid metabolism, and metabolic diseases.
Journal of molecular cell biologyOdevixibat: an investigational inhibitor of the ileal bile acid transporter (IBAT) for the treatment of biliary atresia.
Expert opinion on investigational drugsDietary Polyphenols and In Vitro Intestinal Fructose Uptake and Transport: A Systematic Literature Review.
International journal of molecular sciencesThe Pathophysiological Basis of Diabetic Kidney Protection by Inhibition of SGLT2 and SGLT1.
Kidney and dialysisRegulation of glucose transporter-4 intervention with S. saman leaves extract in streptozotocin-induced diabetic rats.
Journal of diabetes and its complicationsDevelopment of Paeonol Liposomes: Design, Optimization, in vitro and in vivo Evaluation.
International journal of nanomedicineRhizoctonia solani transcriptional activator interacts with rice WRKY53 and grassy tiller 1 to activate SWEET transporters for nutrition.
Journal of advanced researchIron and iron-related proteins in alcohol consumers: cellular and clinical aspects.
Journal of molecular medicine (Berlin, Germany)Sweetly Improving Sugars? Reviewing Cinnamon's Effects on Blood Glucose.
Journal of medicinal foodα-Tocopherol Pharmacokinetics in Adults with Cystic Fibrosis: Benefits of Supplemental Vitamin C Administration.
NutrientsSelective Fluorescent Probes for High-Throughput Functional Diagnostics of the Human Multidrug Transporter P-Glycoprotein (ABCB1).
International journal of molecular sciencesPopulation-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology communicationsResearch progress on natural β-glucan in intestinal diseases.
International journal of biological macromoleculesAltered Bioavailability and Pharmacokinetics in Crohn's Disease: Capturing Systems Parameters for PBPK to Assist with Predicting the Fate of Orally Administered Drugs.
Clinical pharmacokineticsFe3+ opposes the 1,25(OH)2D3-induced calcium transport across intestinal epithelium-like Caco-2 monolayer in the presence or absence of ascorbic acid.
PloS oneHijacking the intrinsic vitamin B12 pathway for the oral delivery of nanoparticles, resulting in enhanced in vivo anti-leishmanial activity.
Biomaterials scienceIdentification of N-Glycoproteins of Knee Cartilage from Adult Osteoarthritis and Kashin-Beck Disease Based on Quantitative Glycoproteomics, Compared with Normal Control Cartilage.
CellsAristolochic acid-induced nephropathy is attenuated in mice lacking the neutral amino acid transporter B0AT1 (Slc6a19).
American journal of physiology. Renal physiologySynthesis of 2-Acetamido-1,3,4-Tri-O-Acetyl-2-Deoxy-D-Mannopyranose -6-Phosphate Prodrugs as Potential Therapeutic Agents.
Current protocolsIncreased glucose influx and glycogenesis in lung cancer cells surviving after irradiation.
International journal of radiation biologyComparative Effects of Allulose, Fructose, and Glucose on the Small Intestine.
NutrientsThe Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial OXPHOS.
International journal of molecular sciencesIntestinal lipid absorption and transport in type 2 diabetes.
DiabetologiaMetabolism toxicity and susceptibility of decabromodiphenyl ether (BDE-209) exposure on BRL cells with insulin resistance.
Environmental science and pollution research internationalAltered fecal microbial and metabolic profile reveals potential mechanisms underlying iron deficiency anemia in pregnant women in China.
Bosnian journal of basic medical sciencesAbsorption characteristics of ilexgenin A and ilexsaponin B1 in human umbilical vein endothelial cells after administration of the total triterpenoid saponins from Ilex pubescens.
Biomedical chromatography : BMCDiabetes mellitus and diabetic foot ulcer: Etiology, biochemical and molecular based treatment strategies via gene and nanotherapy.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieEffects of different dietary protein levels on intestinal aquaporins in weaned piglets.
Journal of animal physiology and animal nutritionCongenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.
Zeitschrift fur Geburtshilfe und NeonatologieGreat Northern Beans (Phaseolus vulgaris L.) Lower Cholesterol in Hamsters Fed a High-Saturated-Fat Diet.
The Journal of nutritionTransport mechanism of hydroxy-propyl-beta-cyclodextrin modified solid lipid nanoparticles across human epithelial cells for the oral absorption of antileishmanial drugs.
Biochimica et biophysica acta. General subjectsThe Microbiome and Uremic Solutes.
ToxinsVitamin B12 absorption and malabsorption.
Vitamins and hormonesHypoglycemic bioactivity of anthocyanins: A review on proposed targets and potential signaling pathways.
Critical reviews in food science and nutritionEffects of an SGLT Inhibitor on the Production, Toxicity, and Elimination of Gut-Derived Uremic Toxins: A Call for Additional Evidence.
ToxinsCapsaicin inhibits intestinal Cl- secretion and promotes Na+ absorption by blocking TRPV4 channels in healthy and colitic mice.
The Journal of biological chemistryExploration of novel phthalazinone derivatives as potential efflux transporter inhibitors for reversing multidrug resistance and improving the oral absorption of paclitaxel.
European journal of medicinal chemistryElucidation of the Transport Mechanism of Puerarin and Gastrodin and Their Interaction on the Absorption in a Caco-2 Cell Monolayer Model.
Molecules (Basel, Switzerland)The Crowded Uterine Horn Mouse Model for Examining Postnatal Metabolic Consequences of Intrauterine Growth Restriction vs. Macrosomia in Siblings.
MetabolitesThe Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.
Clinical pharmacology and therapeuticsCommon variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.
Liver international : official journal of the International Association for the Study of the LiverDietary proanthocyanidins on gastrointestinal health and the interactions with gut microbiota.
Critical reviews in food science and nutritionNaturally Occurring SGLT2 Inhibitors: A Review.
Advances in experimental medicine and biologyPleiotropic Effects of the Protease-Activated Receptor 1 (PAR1) Inhibitor, Vorapaxar, on Atherosclerosis and Vascular Inflammation.
CellsSGLT-1-specific inhibition ameliorates renal failure and alters the gut microbial community in mice with adenine-induced renal failure.
Physiological reportsDesign Strategy for a Hydroxide-Triggered pH-Responsive Hydrogel as a Mucoadhesive Barrier to Prevent Metabolism Disorders.
ACS applied materials & interfacesDrosophila Solute Carrier 5A5 Regulates Systemic Glucose Homeostasis by Mediating Glucose Absorption in the Midgut.
International journal of molecular sciencesRevisiting definition and assessment of intestinal trans-epithelial passage.
Cellular and molecular life sciences : CMLSLipopolysaccharides derived from gram-negative bacterial pool of human gut microbiota promote inflammation and obesity development.
International reviews of immunologyBerberrubine attenuates potassium oxonate- and hypoxanthine-induced hyperuricemia by regulating urate transporters and JAK2/STAT3 signaling pathway.
European journal of pharmacologyRecent advances in riboflavin transporter RFVT and its genetic disease.
Pharmacology & therapeuticsHnf4g invalidation prevents diet-induced obesity via intestinal lipid malabsorption.
The Journal of endocrinologyHemochromatosis classification: update and recommendations by the BIOIRON Society.
BloodA new mechanism of POCD caused by sevoflurane in mice: cognitive impairment induced by cross-dysfunction of iron and glucose metabolism.
AgingAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Alteração da absorção e transporte de carboidratos e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição está associada a mutações em diferentes genes catalogados, como **SI**, **PIDD1**, **EXOSC3** e **VRK1**. O padrão específico de transmissão hereditária depende da alteração genética individual encontrada em cada caso.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (2026). Alteração da absorção e transporte de carboidratos. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/alteracao-da-absorcao-e-transporte-de-carboidratos
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Alteração da absorção e transporte de carboidratos
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
