Doença rara caracterizada por defeitos na absorção e transporte de metabólitos essenciais, levando a hipogonadismo, intolerância à glicose e alterações neurológicas como mioclonia. Pode apresentar microtia, metacarpo curto e distúrbios alimentares.
Introdução
O que você precisa saber de cara
Visão geral
A alteração da absorção e transporte de metabólitos é um grupo de condições genéticas raras que afetam a forma como o corpo absorve, transporta e utiliza substâncias essenciais, como vitaminas, minerais e outras moléculas. Isso pode levar a desequilíbrios que prejudicam o funcionamento de diversos órgãos e sistemas.[1][2]
Sinais e sintomas
Os sinais e sintomas variam amplamente, dependendo do metabólito específico afetado. Podem incluir cansaço (mal-estar), dificuldades alimentares, alterações hormonais (como hipogonadismo), problemas no metabolismo da glicose (tolerância à glicose prejudicada), alterações neurológicas (como comprometimento cognitivo, mioclonia palpebral, lesões no tronco cerebral vistas em exames de imagem), e anormalidades em exames laboratoriais (como ferro sérico diminuído, zinco sérico diminuído, concentração hepática de ferro elevada, aceruloplasminemia, e níveis anormais de acilcarnitina na urina).[1][2]
Causas genéticas
Essas condições são causadas por alterações (mutações) em genes que fornecem instruções para proteínas envolvidas na absorção e transporte de metabólitos. Os genes já identificados incluem: SLC39A4 (transportador de zinco), CLDN19 e CLDN16 (claudinas, importantes no transporte de magnésio e cálcio), HJV (hemojuvelina, envolvida no metabolismo do ferro), PRDX1 (peroxirredoxina), ABCD4 (transportador de cobalamina), SLC30A9 (antiportador de zinco), MTR (metionina sintase), BCO1 (dioxigenase de carotenoides), MMAB e MMACHC (envolvidos no metabolismo da vitamina B12), e ATP7B (transportador de cobre, associado à doença de Wilson).[1][3]
Diagnóstico
O diagnóstico é baseado na avaliação clínica, exames laboratoriais (como dosagens de vitaminas, minerais e metabólitos no sangue e urina) e exames de imagem. O teste genético molecular pode confirmar a causa ao identificar variantes patogênicas nos genes associados. Atualmente, há 336 testes genéticos disponíveis e 356 variantes catalogadas no ClinVar para essas condições.[1][3]
Tratamento e manejo
O tratamento depende do metabólito específico envolvido e pode incluir suplementação nutricional (como zinco, cobre, vitaminas), dietas especiais e medicamentos para corrigir os desequilíbrios. O manejo é individualizado e deve ser acompanhado por uma equipe multidisciplinar. Não há informações sobre cobertura pelo SUS ou procedimentos específicos disponíveis no Brasil.[1]
Prognóstico e qualidade de vida
O prognóstico varia conforme a gravidade da condição e a rapidez do diagnóstico e tratamento. Com acompanhamento adequado, muitos pacientes podem ter melhora dos sintomas e qualidade de vida. No entanto, algumas complicações podem ser graves, como hepatite aguda, sepse, hemorragia intraventricular e comprometimento neurológico progressivo.[1][2]
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 metabólitos é um grupo de doenças raras que afeta a forma como o corpo move e utiliza nutrientes e substâncias essenciais. A família e os médicos podem notar sintomas diversos, como dificuldades alimentares, alterações em exames de ferro ou cobre, inflamações no fígado e manifestações neurológicas. Para esclarecer a causa em cada caso, existem testes genéticos laboratoriais que avaliam alterações nos genes responsáveis por esse transporte celular. Esta condição não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde, não havendo tratamentos gerais dispensados pelo SUS listados para esta categoria.
Doença rara caracterizada por defeitos na absorção e transporte de metabólitos essenciais, levando a hipogonadismo, intolerância à glicose e alterações neurológicas como mioclonia. Pode apresentar microtia, metacarpo curto e distúrbios alimentares.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 415 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 883 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
55 genes identificados com associação a esta condição.
Acrodermatitis enteropathica, zinc-deficiency type
A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.
Hypomagnesemia 5, renal, with or without ocular involvement
A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.
Hypomagnesemia 3
A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia.
Hemochromatosis 2A
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Methylmalonic aciduria and homocystinuria type cblJ
A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.
Birk-Landau-Perez syndrome
An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.
Homocystinuria-megaloblastic anemia, cblG type
An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.
Hypercarotenemia and vitamin A deficiency, autosomal dominant
A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A.
Methylmalonic aciduria, cblB type
An autosomal recessive disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.
Wilson disease
An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
Methylmalonic aciduria and homocystinuria, cblC type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.
Neurodegeneration due to cerebral folate transport deficiency
An autosomal recessive neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy.
Hemochromatosis 4
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Glutamate formiminotransferase deficiency
Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
Hypomagnesemia 2
A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.
Homocystinuria-megaloblastic anemia, cblE type
An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.
Hypomagnesemia 1
A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage.
Hemochromatosis 5
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Imerslund-Grasbeck syndrome 2
A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.
Microcephaly, Amish type
A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy.
Megaloblastic anemia due to dihydrofolate reductase deficiency
An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.
Atransferrinemia
A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.
Hemochromatosis 3
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
MEDNIK syndrome
A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
Hyperferritinemia with or without cataract
An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type
An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits.
Methylmalonic aciduria and homocystinuria, cblX type
An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis.
Hypomagnesemia 6
A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic.
Methylmalonic aciduria and homocystinuria, cblF type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.
Hypermanganesemia with dystonia 2
A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.
Hypermanganesemia with dystonia 1
A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.
Methylmalonic aciduria, transient, due to transcobalamin receptor defect
An autosomal recessive metabolic condition characterized by moderate methymalonicaciduria, and normal plasma vitamin B12 levels. Serum homocysteine may be increased in some affected individuals. Most cases are clinically asymptomatic.
Hereditary intrinsic factor deficiency
Autosomal recessive disorder characterized by megaloblastic anemia.
Aceruloplasminemia
An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy.
Methylmalonic aciduria and homocystinuria type cblL
An autosomal recessive disorder of cobalamin metabolism clinically characterized by early-onset seizures, and profound global developmental delay with severe intellectual disability. Metabolic features are mild methylmalonic aciduria, low-normal plasma methionine, and high-normal plasma homocysteine.
Riboflavin deficiency
A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings.
Charcot-Marie-Tooth disease, axonal, type 2DD
A dominant axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Methylmalonic aciduria and homocystinuria, cblD type
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, and megaloblastic anemia. Laboratory studies show methylmalonic aciduria and homocystinuria.
Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Thiamine-responsive megaloblastic anemia syndrome
An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
Basal ganglia disease, biotin-thiamine responsive
An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Megaloblastic anemia, folate-responsive
An autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Disease manifestations include hemolytic anemia, hyperhomocysteinemia, and low vitamin B12. Serum folate levels are normal, but erythrocyte folate levels are decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine.
Mitochondrial complex IV deficiency, nuclear type 2
An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.
Hereditary folate malabsorption
Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or intellectual disability become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent.
Menkes disease
An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Hypomagnesemia 4
A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
A rare autosomal dominant autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms increase. Cutaneous manifestations include pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum.
Anemia, hypochromic microcytic, with iron overload 1
A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis.
Hemochromatosis 2B
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Medicamentos e terapias
Mecanismo: Cyclooxygenase-2 inhibitor
Mecanismo: Norepinephrine transporter inhibitor
Mecanismo: Norepinephrine transporter inhibitor
Variantes genéticas (ClinVar)
356 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
101 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 metabólitos
Centros de Referência SUS
21 centros habilitados pelo SUS para Alteração da absorção e transporte de metabólitos
Centros para Alteração da absorção e transporte de metabólitos
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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.
Publicações mais relevantes
Structural basis for prostaglandin and drug transport via SLCO2A1.
Organic anion-transporting polypeptide transporters (SLCO/OATPs) function as cellular gatekeepers, regulating intestinal absorption, hepatic and renal clearance, and the tissue distribution of drugs and metabolites in the human body. However, the mechanisms underlying substrate selection within the SLCO superfamily remain unclear, hampering efforts to rationalize the interaction of drugs and metabolites with these transporters. SLCO2A1 (also known as OATP2A1) is responsible for the distribution of eicosanoids, including prostaglandins (PGs) and thromboxanes, throughout the body, in addition to several families of nonsteroidal anti-inflammatory drugs (NSAIDs). Here, we present cryogenic electron microscopy structures of SLCO2A1 bound to endogenous PGs and to four widely prescribed medications for treating inflammation, chronic asthma, and Parkinson's disease (PD). Complementary molecular dynamics and in vivo cellular assays elucidate the molecular basis for PG and drug recognition. Our study reports essential mechanistic details that underpin substrate selection and subfamily adaptation within the broader SLCO superfamily of drug and metabolite transporters.
Novel anti-rheumatic potential of Eucalrobusone C: inhibition of rheumatoid arthritis fibroblast-like synoviocytes and metabolic reprogramming.
Rheumatoid arthritis (RA) is a chronic autoimmune disorder characterized by synovial hyperplasia, inflammatory cell infiltration, and joint destruction. This study investigates the inhibitory effects and metabolic mechanisms of Eucalrobusone C (EC), a novel formyl-phloroglucinol meroterpenoid derivative isolated from Eucalyptus robusta, on Tumour Necrosis Factor-α (TNF-α)-induced rheumatoid arthritis fibroblast-like synoviocytes (RA-FLSs). EC was extracted and purified, with purity confirmed using 1H Nuclear Magnetic Resonance Spectrum (NMR) at 400 MHz. RA-FLSs were exposed to varying concentrations of EC, followed by comprehensive assessment including CCK8 assay for cell proliferation, flow cytometry for cell death, and Transwell assay for migration and invasion capacity. Metabolomic profiling employed Ultra-High Performance Liquid Chromatography-Quadrupole Time-of-Flight Mass Spectrometry (UHPLC-Q-TOF MS), integrated with multivariate statistical analysis and bioinformatics tools to identify metabolic alterations. Results indicated that EC suppressed RA-FLS proliferation in a time- and concentration-dependent manner, significantly enhanced apoptosis, and inhibited cell migration and invasion. Metabolomics analysis detected 898 metabolites, with 112 upregulated and 67 downregulated in EC-treated groups compared to TNF-α-induced controls. Key differentially expressed metabolites were enriched in pathways including ABC transporters, neuroactive ligand-receptor interactions, protein digestion and absorption, and cAMP signalling. These findings suggest that EC exerts anti-rheumatic effects by modulating these metabolic pathways, offering potential as a therapeutic agent for RA management.
A Gut-Restricted Liver X Receptor Agonist Ameliorates Liver Injury in Experimental Short Bowel Syndrome.
Short bowel syndrome (SBS) arises from the surgical removal of extensive portions of the small intestine and is associated with high morbidity, including intestinal failure-associated liver disease (IFALD). Earlier studies revealed that orally administered systemic liver X receptor (LXR) agonist suppresses IFALD in mice and implicated intestinally derived high-density lipoprotein (HDL) in liver protection. Here we aimed to move away from the use of systemic LXR agonists because they have failed in clinical trials due to hepatic steatosis and hyperlipidemia, to determine if a gut-restricted LXR agonist could provide hepatoprotection in SBS. We synthesized and characterized WUSTL0717, an amide analog of GW3965, as a putative gut-restricted LXR agonist, and evaluated its potential to improve the outcomes in a preclinical mouse model of SBS. WUSTL0717 exhibited exceptional intestinal retention in pharmacokinetic analyses and activated LXR target genes in the small intestine but not the liver. Whereas small bowel resection lowered many lipid metabolites in portal venous plasma, WUSTL0717 treatment increased portal venous Apolipoprotein A1 (ApoA1), the core protein of HDL, and spared portal venous phospholipids known to be enriched on HDL. Accordingly, intestinal ApoA1 deficiency exacerbated IFALD, and in wild-type mice, portal venous ApoA1 and phospholipids inversely correlated with hepatic collagen accumulation. In addition, WUSTL0717 improved nutrient absorption and promoted body weight restoration in SBS. These data underscore the potential of gut-restricted LXR agonists to preserve metabolic health in the context of SBS. By acting locally in the intestine, WUSTL0717 positively mitigates profibrotic liver injury while avoiding systemic availability.
Influence of plant-derived bioactive compounds on iron metabolism: mechanistic insights with translational relevance.
Iron is an essential micronutrient involved in key physiological processes, including oxygen transport and mitochondrial energy production. As humans lack a regulated excretory pathway for excess iron, systemic homeostasis depends on tightly controlled mechanisms of intestinal absorption, cellular storage, and recycling. Dysregulation of these processes may result in iron deficiency or overload, both associated with significant health implications. Plant bioactive compounds, a diverse group of secondary metabolites present in various plant tissues, have gained attention for their modulatory effects on iron metabolism. Emerging evidence suggests that these compounds influence the expression and activity of iron-regulatory proteins such as hepcidin, ferroportin (FPN), ferritin, transferrin, and divalent metal transporter 1 (DMT1). Their biological effects are frequently attributed to antioxidant, metal-chelating, and anti-inflammatory properties. This review provides a comprehensive overview of selected plant-derived bioactive compounds-curcumin, catechins, quercetin, resveratrol, sulforaphane, tannins, myricetin, apigenin, and oleuropein-and their roles in iron metabolism and homeostasis. Special attention is given to their mechanistic actions and therapeutic potential in the context of iron-related disorders.
Chronic salicylate administration induces transcriptomic and metabolomic remodeling in the rat cochlear nucleus and hippocampus.
Salicylate reliably induces tinnitus, yet its systemic effects on the central auditory and limbic systems remain incompletely characterized. Through integrated transcriptomic and metabolomic profiling of the rat cochlear nucleus and hippocampus, we observed pronounced region-specific remodeling following chronic tinnitus-inducing salicylate treatment. All differential and enrichment analyses were filtered using a nominal p-value cutoff (p < 0.05) without multiple-testing correction; thus, the findings should be interpreted as exploratory. We identified 150 differentially expressed genes (DEGs) and 70 differentially expressed metabolites (DEMs) in the cochlear nucleus, and 550 DEGs alongside 71 DEMs in the hippocampus. In the cochlear nucleus, DEGs were enriched in neuroactive ligand-receptor interaction, cell adhesion, TNF signaling, ABC transporters, and Hippo signaling pathways. Concurrently, DEMs were enriched in cholesterol metabolism, choline metabolism, aldosterone and cortisol synthesis, primary bile acid biosynthesis, and vitamin digestion and absorption. Multi-omics integration highlighted a synergistic network involving bile secretion, cholesterol metabolism, and ABC transporters. In the hippocampus, DEGs were associated with extracellular matrix (ECM)-receptor interaction, phagosome, apoptosis, PI3K-Akt signaling pathway, focal adhesion, Hippo signaling pathway, fatty acid elongation, and proteoglycans in cancer. DEMs were enriched in choline metabolism, glycerophospholipid metabolism, cholesterol metabolism, vitamin digestion and absorption, retrograde endocannabinoid signaling, primary bile acid biosynthesis, linoleic acid metabolism, alpha-linolenic acid metabolism, and phenylalanine metabolism. Integrative analysis revealed correlated networks involving, primary bile acid biosynthesis, bile secretion, cholesterol metabolism, ABC transporters, and choline metabolism. These findings provide a comprehensive view of the neurobiological mechanisms underlying salicylate-induced tinnitus, demonstrating robust region-specific remodeling within auditory and limbic structures. Our results suggest chronic salicylate exposure disrupts critical bioenergetic and signaling pathways, contributing to aberrant neural excitability in the auditory pathway and cognitive-affective impairments mediated by the hippocampus.
Publicações recentes
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Net release and uptake of xenometabolites across intestinal, hepatic, muscle, and renal tissue beds in healthy conscious pigs.
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Structural basis for prostaglandin and drug transport via SLCO2A1.
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International immunopharmacologyThe Effects of Astaxanthin on Metabolic Syndrome: A Comprehensive Review.
Marine drugsThe impact of solute carrier proteins on disrupting substance regulation in metabolic disorders: insights and clinical applications.
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BMC microbiologyBanxia-Yiyiren alleviates insomnia and anxiety by regulating the gut microbiota and metabolites of PCPA-induced insomnia model rats.
Frontiers in microbiologyRole of Gpcpd1 in intestinal alpha-glycerophosphocholine metabolism and trimethylamine N-oxide production.
The Journal of biological chemistryDietary protein intake and the tubular handling of indoxyl sulfate.
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Poultry scienceMelatonin feeding changed the microbial diversity and metabolism of the broiler cecum.
Frontiers in microbiologyThermophilic fungus uses anthraquinones to modulate ferrous excretion, sterol-mediated endocytosis, and iron storage in response to cold stress.
Microbial biotechnologyProtective effect of walnut active peptide against dextran sulfate sodium-induced colitis in mice based on untargeted metabolomics.
International immunopharmacologyQuantifying Forms and Functions of Enterohepatic Bile Acid Pools in Mice.
Cellular and molecular gastroenterology and hepatologyDietary nitrate maintains intestinal epithelia homeostasis in aged mice.
BiogerontologyDietary Exposure to Acrylamide Has Negative Effects on the Gastrointestinal Tract: A Review.
NutrientsMultiomics reveals the ameliorating effect and underlying mechanism of aqueous extracts of polygonatum sibiricum rhizome on obesity and liver fat accumulation in high-fat diet-fed mice.
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International immunopharmacologyComparative genomic and metabolomic analysis reveals the potential of a newly isolated Enterococcus faecium B6 involved in lipogenic effects.
GeneMulti-target Phenylpropanoids Against Epilepsy.
Current neuropharmacologyMetabolism, Disposition, Excretion, and Potential Transporter Inhibition of 7-16, an Improving 5-HT2A Receptor Antagonist and Inverse Agonist for Parkinson's Disease.
Molecules (Basel, Switzerland)Inflammation and Organic Cation Transporters Novel (OCTNs).
BiomoleculesThe inhibitory effects of endophytic metabolites on glycated proteins under non-communicable disease conditions: A review.
International journal of biological macromoleculesDuck compound probiotics fermented diet alters the growth performance by shaping the gut morphology, microbiota and metabolism.
Poultry scienceMyricanol improves metabolic profiles in dexamethasone induced lipid and protein metabolism disorders in mice.
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Journal of ethnopharmacologyMechanisms of Dangua Fang in multi-target and multi-method regulation of glycolipid metabolism based on phosphoproteomics.
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International journal of biological macromoleculesMulti-omics reveals that alkaline mineral water improves the respiratory health and growth performance of transported calves.
MicrobiomeThe Role of Anthocyanins in Alleviating Intestinal Diseases: A Mini Review.
Journal of agricultural and food chemistryGut microbiota and metabolic profiles in chronic intermittent hypoxia-induced rats: disease-associated dysbiosis and metabolic disturbances.
Frontiers in endocrinologyDisorders of Copper Metabolism in Children-A Problem too Rarely Recognized.
MetabolitesRisk Assessment for Hepatobiliary Toxicity Liabilities in Drug Development.
Toxicologic pathologyPharmacokinetics and absorption mechanism of tandospirone citrate.
Frontiers in pharmacologyIntegration 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 methodsIntegrated analysis of metabolomic and transcriptomic profiling reveals the effect of Atractylodes oil on Spleen Yang Deficiency Syndrome in rats.
Journal of ethnopharmacologySerum 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 analysisPharmacokinetics and Absorption, Distribution, Metabolism and Excretion of RGLS4326 in Mouse and Monkey, an Anti-miR-17 Oligonucleotide for the Treatment of Polycystic Kidney Disease.
Drug metabolism and disposition: the biological fate of chemicalsAmino acids contribute to adaptive thermogenesis. New insights into the mechanisms of action of recent drugs for metabolic disorders are emerging.
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MetabolitesAquaporin-4 Deficiency is Associated with Cognitive Impairment and Alterations in astrocyte-neuron Lactate Shuttle.
Molecular neurobiologyA combined proteomics and metabolomics analysis reveals the invisible regulation of plant root responses to oxybenzone (benzophenone-3) stress.
The Science of the total environmentRoles of bile acids signaling in neuromodulation under physiological and pathological conditions.
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ACS omegaThe efficacy of anti-proteolytic peptide R7I in intestinal inflammation, function, microbiota, and metabolites by multi-omics analysis in murine bacterial enteritis.
Bioengineering & translational medicineWorsening psychosis associated with administrations of buspirone and concerns for intranasal administration: A case report.
Frontiers in psychiatryOral Exposure to Polystyrene Microplastics of Mice on a Normal or High-Fat Diet and Intestinal and Metabolic Outcomes.
Environmental health perspectivesInsights of Endocytosis Signaling in Health and Disease.
International journal of molecular sciencesNeuromicrobiology, an emerging neurometabolic facet of the gut microbiome?
Frontiers in microbiologyNovel albendazole-glucan particles for enhancing intestinal absorption and improving hepatic targeting.
Annals of translational medicineBile acids and microbes in metabolic disease.
World journal of gastroenterologyLimosilactobacillus reuteri and caffeoylquinic acid synergistically promote adipose browning and ameliorate obesity-associated disorders.
MicrobiomeEnhancing 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 healthDietary Polyphenols and In Vitro Intestinal Fructose Uptake and Transport: A Systematic Literature Review.
International journal of molecular sciencesDecreasing microbiota-derived uremic toxins to improve CKD outcomes.
Clinical kidney journalNontargeted metabolomics to characterize the effects of isotretinoin on skin metabolism in rabbit with acne.
Frontiers in pharmacologyComparison of metabolic profiles in aqueous humour of Fuchs' syndrome and presumed viral-induced anterior uveitis patients.
Clinical & experimental ophthalmologyAltered fecal microbial and metabolic profile reveals potential mechanisms underlying iron deficiency anemia in pregnant women in China.
Bosnian journal of basic medical sciencesMetabolomics Study Suggests the Mechanism of Different Types of Tieguanyin (Oolong) Tea in Alleviating Alzheimer's Disease in APP/PS1 Transgenic Mice.
MetabolitesDNA methylation mediates the genetic variants on ticagrelor major metabolite elimination and platelet function recovery after ticagrelor discontinuation.
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NatureThe Microbiome and Uremic Solutes.
ToxinsThe Crowded Uterine Horn Mouse Model for Examining Postnatal Metabolic Consequences of Intrauterine Growth Restriction vs. Macrosomia in Siblings.
MetabolitesCrosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies.
MetabolitesDietary proanthocyanidins on gastrointestinal health and the interactions with gut microbiota.
Critical reviews in food science and nutritionOxalate Flux Across the Intestine: Contributions from Membrane Transporters.
Comprehensive PhysiologyBerberrubine attenuates potassium oxonate- and hypoxanthine-induced hyperuricemia by regulating urate transporters and JAK2/STAT3 signaling pathway.
European journal of pharmacologyPropionate attenuates atherosclerosis by immune-dependent regulation of intestinal cholesterol metabolism.
European heart journalOxidized Low-Density Lipoprotein Links Hypercholesterolemia and Bladder Cancer Aggressiveness by Promoting Cancer Stemness.
Cancer researchThe role of lymphatics in intestinal inflammation.
Inflammation and regenerationSphingolipids in foodstuff: Compositions, distribution, digestion, metabolism and health effects - A comprehensive review.
Food research international (Ottawa, Ont.)A transepithelial pathway delivers succinate to macrophages, thus perpetuating their pro-inflammatory metabolic state.
Cell reportsADME and Pharmacokinetic Properties of Remdesivir: Its Drug Interaction Potential.
Pharmaceuticals (Basel, Switzerland)Effects of Genetic Polymorphism in CYP2D6, CYP2C19, and the Organic Cation Transporter OCT1 on Amitriptyline Pharmacokinetics in Healthy Volunteers and Depressive Disorder Patients.
Frontiers in pharmacologyIn Vitro Assessment of the Drug-Drug Interaction Potential of Verinurad and Its Metabolites as Substrates and Inhibitors of Metabolizing Enzymes and Drug Transporters.
The Journal of pharmacology and experimental therapeuticsUnique Regulation of Intestinal Villus Epithelial Cl-/HCO3- Exchange by Cyclooxygenase Pathway Metabolites of Arachidonic Acid in a Mouse Model of Spontaneous Ileitis.
International journal of molecular sciencesIntranasal administration of the chemotherapeutic perillyl alcohol results in selective delivery to the cerebrospinal fluid in rats.
Scientific reportsIn vitro evaluations for pharmacokinetic drug-drug interactions of a novel serotonin-dopamine activity modulator, brexpiprazole.
Xenobiotica; the fate of foreign compounds in biological systemsAbsorption, Metabolism, Distribution, and Excretion of Letermovir.
Current drug metabolismThe gut microbiota as a target to control hyperuricemia pathogenesis: Potential mechanisms and therapeutic strategies.
Critical reviews in food science and nutritionSubacute toxicity of mesoporous silica nanoparticles to the intestinal tract and the underlying mechanism.
Journal of hazardous materialsOxalobacter formigenes produces metabolites and lipids undetectable in oxalotrophic Bifidobacterium animalis.
Metabolomics : Official journal of the Metabolomic SocietyBasal microvilli define the metabolic capacity and lethal phenotype of pancreatic cancer.
The Journal of pathologyPharmacokinetics of Deutetrabenazine and Tetrabenazine: Dose Proportionality and Food Effect.
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ToxinsUse of encapsulated L-lysine-HCl and DL-methionine improves postprandial amino acid balance in laying hens.
Journal of animal scienceLactose-Induced Chronic Diarrhea Results From Abnormal Luminal Microbial Fermentation and Disorder of Ion Transport in the Colon.
Frontiers in physiologyDextran sulfate sodium-induced colitis and ginseng intervention altered oral pharmacokinetics of cyclosporine A in rats.
Journal of ethnopharmacologyPostnatal growth retardation is associated with intestinal mucosa mitochondrial dysfunction and aberrant energy status in piglets.
Journal of cellular and molecular medicineInteractions of dietary polyphenols with epithelial lipids: advances from membrane and cell models in the study of polyphenol absorption, transport and delivery to the epithelium.
Critical reviews in food science and nutritionMood-Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome-Wide Association Study.
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American journal of physiology. Gastrointestinal and liver physiologyPredictive Metagenomic Profiling, Urine Metabolomics, and Human Marker Gene Expression as an Integrated Approach to Study Alopecia Areata.
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Xenobiotica; the fate of foreign compounds in biological systemsDescription of Druglike Properties of Safranal and Its Chemistry behind Low Oral Exposure.
ACS omegaSerum Metabolomics Revealed the Differential Metabolic Pathway in Calves with Severe Clinical Diarrhea Symptoms.
Animals : an open access journal from MDPIThe Systems Biology of Drug Metabolizing Enzymes and Transporters: Relevance to Quantitative Systems Pharmacology.
Clinical pharmacology and therapeuticsGenetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.
Nature geneticsGlucuronidation as a metabolic barrier against zearalenone in rat everted intestine.
The Journal of veterinary medical scienceLong Peritoneal Dialysis Dwells With Icodextrin: Kinetics of Transperitoneal Fluid and Polyglucose Transport.
Frontiers in physiologyMicrobial Metabolite Signaling Is Required for Systemic Iron Homeostasis.
Cell metabolismThe pharmacokinetics of mycophenolic acid in rats with orotic acid induced nonalcoholic fatty liver disease.
Canadian journal of physiology and pharmacologyMice Lacking the Intestinal and Renal Neutral Amino Acid Transporter SLC6A19 Demonstrate the Relationship between Dietary Protein Intake and Amino Acid Malabsorption.
NutrientsMetabonomics of mice intestine in Codonopsis foetens induced apoptosis of intestine cancer cells.
Saudi journal of biological sciencesEffect of renal tubule-specific knockdown of the Na+/H+ exchanger NHE3 in Akita diabetic mice.
American journal of physiology. Renal physiologyInfluence of CYP450 Enzymes, CES1, PON1, ABCB1, and P2RY12 Polymorphisms on Clopidogrel Response in Patients Subjected to a Percutaneous Neurointervention.
Clinical therapeuticsBioavailability and metabolism of selected cocoa bioactive compounds: A comprehensive review.
Critical reviews in food science and nutritionBioluminescent-based imaging and quantification of glucose uptake in vivo.
Nature methodsEnhanced Microbial Bile Acid Deconjugation and Impaired Ileal Uptake in Pregnancy Repress Intestinal Regulation of Bile Acid Synthesis.
Hepatology (Baltimore, Md.)[Diosmin in the treatment of venous disease: pharmacokinetics and pharmacodynamics (in Russian only)].
KhirurgiiaShort Chain Fatty Acids (SCFAs)-Mediated Gut Epithelial and Immune Regulation and Its Relevance for Inflammatory Bowel Diseases.
Frontiers in immunologyTranscriptional response of ATP-binding cassette (ABC) transporters to insecticides in the cotton bollworm, Helicoverpa armigera.
Pesticide biochemistry and physiologyUraemic syndrome of chronic kidney disease: altered remote sensing and signalling.
Nature reviews. NephrologyAmino Acid Transport Across the Mammalian Intestine.
Comprehensive PhysiologyStudies of human hemoglobin modified with peroxynitrite: A cytotoxic metabolite generated in numerous disorders.
International journal of health sciencesDevelopment of Biomarkers for Inhibition of SLC6A19 (B⁰AT1)-A Potential Target to Treat Metabolic Disorders.
International journal of molecular sciencesEvaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria.
BioanalysisCyclooxygenase pathway mediates the inhibition of Na-glutamine co-transporter B0AT1 in rabbit villus cells during chronic intestinal inflammation.
PloS oneReversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase.
Traffic (Copenhagen, Denmark)Influence of Nutritional Status on the Absorption of Polyphyllin I, an Anticancer Candidate from Paris polyphylla in Rats.
European journal of drug metabolism and pharmacokineticsThe Pharmabiotic Approach to Treat Hyperammonemia.
NutrientsGinseng polysaccharides enhanced ginsenoside Rb1 and microbial metabolites exposure through enhancing intestinal absorption and affecting gut microbial metabolism.
Journal of ethnopharmacologyBile acids in glucose metabolism in health and disease.
The Journal of experimental medicineVarying the ratio of Lys:Met while maintaining the ratios of Thr:Phe, Lys:Thr, Lys:His, and Lys:Val alters mammary cellular metabolites, mammalian target of rapamycin signaling, and gene transcription.
Journal of dairy scienceEffect and mechanism of dioscin from Dioscorea spongiosa on uric acid excretion in animal model of hyperuricemia.
Journal of ethnopharmacologyThe Effect of Extended Release Niacin on Markers of Mineral Metabolism in CKD.
Clinical journal of the American Society of Nephrology : CJASNExploring venlafaxine pharmacokinetic variability with a phenotyping approach, a multicentric french-swiss study (MARVEL study).
BMC pharmacology & toxicologyInfluence of Jiegeng on Pharmacokinetic Properties of Flavonoids and Saponins in Gancao.
Molecules (Basel, Switzerland)Ketamine metabolites with antidepressant effects: Fast, economical, and eco-friendly enantioselective separation based on supercritical-fluid chromatography (SFC) and single quadrupole MS detection.
Journal of pharmaceutical and biomedical analysis[Research progress of trimethylamine-N-oxide in the pathogenesis of atherosclerosis].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesGlucagon-like peptide 2 prevents down-regulation of intestinal multidrug resistance-associated protein 2 and P-glycoprotein in endotoxemic rats.
ToxicologyRiboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.
Journal of clinical medicineIntestinal Transport Characteristics and Metabolism of C-Glucosyl Dihydrochalcone, Aspalathin.
Molecules (Basel, Switzerland)Bile acid analysis in human disorders of bile acid biosynthesis.
Molecular aspects of medicineLower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility.
CirculationMYC-driven inhibition of the glutamate-cysteine ligase promotes glutathione depletion in liver cancer.
EMBO reportsIntestinal transport and absorption of bioactive phenolic compounds from a chemically characterized aqueous extract of Athrixia phylicoides.
Journal of ethnopharmacologyColonic Absorption of Low-Molecular-Weight Metabolites Influenced by the Intestinal Microbiome: A Pilot Study.
PloS one[Dietary phospholipids: lipid metabolism and risk factors for cardiovascular diseases].
Voprosy pitaniiaThe role of intestinal oxalate transport in hyperoxaluria and the formation of kidney stones in animals and man.
Urolithiasis[Tenofovir alafenamide fumarate - a new generation of tenofovir].
Klinicka mikrobiologie a infekcni lekarstviThe effects of 18β-glycyrrhetinic acid and glycyrrhizin on intestinal absorption of paeoniflorin using the everted rat gut sac model.
Journal of natural medicinesRole of Plant Polyphenols in Alzheimer's Disease.
Advances in neurobiologyResveratrol improves TNF-α-induced endothelial dysfunction in a coculture model of a Caco-2 with an endothelial cell line.
The Journal of nutritional biochemistryPharmacological properties of microneurotrophin drugs developed for treatment of amyotrophic lateral sclerosis.
Biochemical pharmacologyThe Extracellular Calcium-Sensing Receptor in the Intestine: Evidence for Regulation of Colonic Absorption, Secretion, Motility, and Immunity.
Frontiers in physiology[THE OPTIMIZATION OF NUTRITION FUNCTION UNDER SYNDROME OF RESISTANCE TO INSULIN, DISORDER OF FATTY ACIDS' METABOLISM AND ABSORPTION OF GLUCOSE BY CELLS (A LECTURE)].
Klinicheskaia laboratornaia diagnostikaEnhanced Activity of Topical Hydrocortisone by Competitive Binding of Corticosteroid-Binding Globulin.
Journal of pharmaceutical sciencesIntestinal SGLT1 in metabolic health and disease.
American journal of physiology. Gastrointestinal and liver physiologyThe role of glucuronidation in drug resistance.
Pharmacology & therapeutics1H NMR-based metabolomics study on the physiological variations during the rat pregnancy process.
Molecular and cellular endocrinologyPharmacokinetics and Exposure-Response Relationships of Dasotraline in the Treatment of Attention-Deficit/Hyperactivity Disorder in Adults.
Clinical drug investigationChemical inhibition of fatty acid absorption and cellular uptake limits lipotoxic cell death.
Biochemical pharmacologyThe First-in-Class Potassium-Competitive Acid Blocker, Vonoprazan Fumarate: Pharmacokinetic and Pharmacodynamic Considerations.
Clinical pharmacokineticsTaurine deficiency, synthesis and transport in the mdx mouse model for Duchenne Muscular Dystrophy.
The international journal of biochemistry & cell biologyIntranasal delivery of progesterone after transient ischemic stroke decreases mortality and provides neuroprotection.
NeuropharmacologyGene ablation of carnitine/organic cation transporter 1 reduces gastrointestinal absorption of 5-aminosalicylate in mice.
Biological & pharmaceutical bulletinEgg phospholipids and cardiovascular health.
NutrientsPharmacokinetics, Pharmacodynamics and Clinical Use of SGLT2 Inhibitors in Patients with Type 2 Diabetes Mellitus and Chronic Kidney Disease.
Clinical pharmacokineticsPlasma biomarker of dietary phytosterol intake.
PloS oneIntestinal formation of trans-crocetin from saffron extract (Crocus sativus L.) and in vitro permeation through intestinal and blood brain barrier.
Phytomedicine : international journal of phytotherapy and phytopharmacologyThe TMAO-Generating Enzyme Flavin Monooxygenase 3 Is a Central Regulator of Cholesterol Balance.
Cell reportsA gut microbial metabolite of ginsenosides, compound K, induces intestinal glucose absorption and Na(+) /glucose cotransporter 1 gene expression through activation of cAMP response element binding protein.
Molecular nutrition & food researchAssociações
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 metabólitos 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
É uma categoria de doenças raras catalogada sob o código Orphanet 309824. Ela engloba defeitos genéticos que prejudicam a absorção e o deslocamento de nutrientes essenciais nas células.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 9 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 metabólitos. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/alteracao-da-absorcao-e-transporte-de-metabolitos
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 metabólitos
📋 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
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
