É uma doença metabólica hereditária onde quantidades prejudiciais de um tipo de gordura, chamado lipídio, se acumulam nas células e tecidos do corpo. Isso acontece porque uma enzima específica (conhecida como hidrolase) ou uma proteína auxiliar não funciona direito. Por causa disso, as gorduras que deveriam ser processadas não conseguem ser quebradas e se acumulam dentro de uma parte da célula chamada lisossomo, que age como um 'centro de reciclagem' celular. Aos poucos, essas gorduras começam a se espalhar para outras membranas e estruturas internas da célula.
Introdução
O que você precisa saber de cara
A **doença de armazenamento lipídico** é uma condição genética rara em que as células não conseguem processar gorduras corretamente, acumulando-as dentro dos lisossomos. Com o acúmulo, a pessoa pode apresentar fraqueza muscular, dificuldade para subir escadas, problemas no coração e alterações neurológicas. Por se tratar de um grupo amplo de doenças, não existe um PCDT específico do Ministério da Saúde nem remédios dispensados diretamente pelo SUS para esta categoria geral. O acompanhamento médico contínuo é fundamental para controlar as complicações e investigar o gene exato causador da condição.
É uma doença metabólica hereditária onde quantidades prejudiciais de um tipo de gordura, chamado lipídio, se acumulam nas células e tecidos do corpo. Isso acontece porque uma enzima específica (conhecida como hidrolase) ou uma proteína auxiliar não funciona direito. Por causa disso, as gorduras que deveriam ser processadas não conseguem ser quebradas e se acumulam dentro de uma parte da célula chamada lisossomo, que age como um 'centro de reciclagem' celular. Aos poucos, essas gorduras começam a se espalhar para outras membranas e estruturas internas da célula.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 381 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 933 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
34 genes identificados com associação a esta condição.
Gaucher disease
An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis.
Spastic paraplegia 46, autosomal recessive
A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Kufor-Rakeb syndrome
A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.
Epilepsy, progressive myoclonic 4, with or without renal failure
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved.
Ceroid lipofuscinosis, neuronal, 8
A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Ceroid lipofuscinosis, neuronal, 2
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.
Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive.
Ceroid lipofuscinosis, neuronal, 10
A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.
Ceroid lipofuscinosis, neuronal, 3
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.
Cerebrotendinous xanthomatosis
Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Chanarin-Dorfman syndrome
An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.
Ceroid lipofuscinosis, neuronal, 5
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant
An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.
Ceroid lipofuscinosis, neuronal, 7
A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.
Frontotemporal dementia 2
A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. Gestural apraxia, parkinsonism, visual loss, and visual hallucinations are present in 25 to 40% of patients.
Ceroid lipofuscinosis, neuronal, 1
A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).
Hyperlipoproteinemia 3
A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause.
Farber lipogranulomatosis
An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age.
Ceroid lipofuscinosis, neuronal, 6
An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Cardiomyopathy, dilated, 2H
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy.
GM2-gangliosidosis 2
An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.
GM2-gangliosidosis AB
An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B.
GM1-gangliosidosis 1
An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.
Niemann-Pick disease C2
A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.
Krabbe disease
An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.
Cholesteryl ester storage disease
An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood.
GM2-gangliosidosis 1
An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).
Niemann-Pick disease C1
A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.
Niemann-Pick disease A
An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B.
Multiple sulfatase deficiency
A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
Medicamentos e terapias
Mecanismo: Bile acid receptor FXR agonist
Mecanismo: Alpha-galactosidase A stabiliser
Mecanismo: Ceramide glucosyltransferase inhibitor
Mecanismo: Ceramide glucosyltransferase inhibitor
Mecanismo: Programmed cell death protein 1 antagonist
Mecanismo: ARSA exogenous gene
Mecanismo: Ceramide glucosyltransferase inhibitor
Mecanismo: Alpha-galactosidase A stabiliser
Mecanismo: Ceramide glucosyltransferase inhibitor
Variantes genéticas (ClinVar)
642 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
65 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 — Doença de armazenamento lipídico
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença de armazenamento lipídico
Centros para Doença de armazenamento lipídico
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.
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19 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation.
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene, leading to defective triglyceride hydrolysis and lipid accumulation in tissues. We report a 28-year-old Indian female presented with a 4-year history of progressive, asymmetric limb weakness, elevated creatine kinase (1000 U/L), and vitiligo. Muscle magnetic resonance imaging (MRI) revealed asymmetric fatty infiltration. Muscle biopsy showed subtle vacuolar changes; notably, oil red O staining was negative, a known limitation in formalin-fixed tissue. Whole-exome sequencing identified a novel, likely pathogenic homozygous frameshift mutation, c. 212del, in exon 3 of PNPLA2, absent in population databases (gnomAD, ClinVar) and classified as likely pathogenic as per American College of Medical Genetics and Genomics (ACMG) criteria (PVS1, PM2). This case underscores the phenotypic variability of NLSDM and expands the genetic spectrum of the disease in the Indian population, highlighting the critical role of genetic testing for definitive diagnosis-particularly when histopathological lipid staining is unrevealing.
ATGL-mediated lipolysis is essential for myocellular mitochondrial function, mitochondria-lipid droplet interaction and mitochondrial network connectivity.
Defects in Adipose tissue TriGlyceride Lipase (ATGL)-mediated myocellular lipid droplet (LD) lipolysis results in mitochondrial dysfunction of unknown origin, which can be rescued by PPAR agonists. Here we examine if ATGL-mediated lipolysis is required to maintain mitochondrial network connectivity and function. Moreover, we explored if the functional implications of ATGL deficiency for mitochondrial network dynamics and function can be alleviated by promoting PPARα and/or PPARδ transcriptional activity. To this end, we cultured human primary myotubes from patients with neutral lipid storage disease with myopathy (NLSDM), a rare metabolic disorder caused by a mutation in the gene encoding for ATGL. These myotubes possess dysfunctional ATGL and compromised LD lipolysis. In addition, mitochondria-LD contact, mitochondrial network connectivity, and mitochondrial membrane potential were affected. Using a humanized ATGL inhibitor in myotubes (cultured form healthy donors) revealed similar results. Upon stimulating PPARδ transcriptional activity, mitochondrial respiration improved by more than 50 % in human primary myotubes from healthy lean individuals. This increase in respiration was dampened in myotubes with dysfunctional ATGL. Stimulation of PPARδ transcriptional activity had no effect on mitochondria-LD contacts, mitochondrial network connectivity, and mitochondrial membrane potential. Our results demonstrate that dysfunctional ATGL results in compromised mitochondrial-LD contacts and mitochondrial network connectivity, and that functional ATGL is required to improve mitochondrial respiratory capacity upon stimulation of PPARδ transcriptional activity.
Rare presentation as Dilated Cardiomyopathy: PNPLA2 Gene Mutation and Neutral Lipid Storage Disease with Myopathy.
Cholestanol promotes tau pathology in a mouse model of tauopathy.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease characterized by the accumulation of cholestanol. CTX patients often suffer from cognitive impairment. We found that serum cholestanol levels are higher in Alzheimer's disease (AD) patients than in control subjects. Thus, we tested whether cholestanol regulates the pathogenesis of AD. Cholestanol promotes tau fragmentation and hyperphosphorylation by activating asparagine endopeptidase (AEP). AEP knockdown alleviates cholestanol-induced tau fragmentation and phosphorylation. Feeding cholestanol to tau P301S mice aggravates tau pathology and behavioral defects, while knockout of AEP ameliorates cholestanol-induced tau pathology and behavioral defects in tau P301S mice. These results highlight the role of AEP-mediated tau cleavage in cholestanol-induced tau pathology and cognitive decline. The data also identify the potential therapeutic target of AEP in AD, particularly in AD patients with elevated serum cholestanol levels.
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27-hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of cholestanol in tissues. This study highlights the recent FDA approval of Ctexli (chenodiol), a synthetic CDCA formulation, as the first treatment option for CTX. A comprehensive literature search was performed using PubMed and Google Scholar, and relevant articles were identified that focused on the mechanism of action, clinical efficacy, and safety of chenodiol. Data from the RESTORE Phase 3 trial demonstrated that chenodiol significantly reduced plasma cholestanol and urinary bile alcohol levels, with the most pronounced results observed in patients treated before the onset of irreversible neurological damage. The FDA approval of Ctexli validated these findings and established chenodiol as a reliable therapeutic option for CTX. The FDA approval of chenodiol marks a significant milestone in the management of CTX, providing a standardized and evidence-based therapy for a previously neglected condition. Early diagnosis, broader screening, and global access to the drug will be key to improving outcomes and ensuring lasting clinical benefit.
Publicações recentes
Rare Presentation as Dilated Cardiomyopathy: PNPLA2 Gene Mutation and Neutral Lipid Storage Disease With Myopathy.
Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation.
Cholestanol promotes tau pathology in a mouse model of tauopathy.
Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease.
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.
📚 EuropePMC127 artigos no totalmostrando 164
Rare presentation as Dilated Cardiomyopathy: PNPLA2 Gene Mutation and Neutral Lipid Storage Disease with Myopathy.
The Canadian journal of cardiologyNeutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation.
Annals of Indian Academy of NeurologyCholestanol promotes tau pathology in a mouse model of tauopathy.
Cellular and molecular life sciences : CMLSHidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease.
CureusFDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy.
Health science reportsIsolated Right Ventricular Hypertrophy: A Novel Cardiac Manifestation of Neutral Lipid Storage Disease.
European heart journal. Cardiovascular ImagingATGL-mediated lipolysis is essential for myocellular mitochondrial function, mitochondria-lipid droplet interaction and mitochondrial network connectivity.
Biochimica et biophysica acta. Molecular and cell biology of lipidsLong-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome.
Molecular genetics and metabolism reportsNeuro-immune axis in atherosclerosis: mechanisms of regulation and therapeutic opportunities.
Frontiers in immunologyCase Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.
Frontiers in geneticsDefective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.
Journal of lipid researchClinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.
Orphanet journal of rare diseasesClinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.
Journal of clinical lipidologyFabry Disease in a Patient With Thin Basement Membrane Nephropathy.
CureusGalactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.
CureusCellular aspects of immunity involved in the development of atherosclerosis.
Frontiers in immunologyA Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism.
Molecular syndromologyLiver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationCerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
European journal of neurologyNeutral Lipid Storage Disease With Myopathy and Infiltrative Cardiomyopathy Initially Presenting as Right Arm Weakness.
JACC. Case reportsA Disruptive Technology in the Making.
JACC. Case reportsTwo PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.
BMC musculoskeletal disordersDilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Frontiers in geneticsClinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Clinical genetics[Clinical characteristics and genetic analysis of a child with Neutral lipid storage disease with myopathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNeutral lipid storage disease with ichthyosis and fatty liver.
BMJ case reportsMalar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.
Journal of clinical lipidologyThe presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Clinical biochemistryNeutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.
Neuromuscular disorders : NMDNpc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.
Animal genetics[Ocular manifestation of an adult Niemann-Pick disease type B].
Orvosi hetilapChanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.
Journal of clinical lipidologyMicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.
BiomedicinesLipid storage disease in 4 sibling superb birds-of-paradise (Lophorina superba).
Veterinary pathologyGlycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C.
Disease models & mechanismsCerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report.
Frontiers in neurologyHyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Neuromuscular disorders : NMDFrom amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.
Free neuropathologyEffects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Orphanet journal of rare diseasesSCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
Acta neuropathologicaNeutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
BMC neurologyNeutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Clinical neurology and neurosurgeryEffects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.
BiomoleculesCase report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia.
Frontiers in neurologyCould "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?
Indian journal of dermatologyA novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.
Molecular genetics and metabolism reportsLipidomic profiling of rat hepatic stellate cells during activation reveals a two-stage process accompanied by increased levels of lysosomal lipids.
The Journal of biological chemistryCharacterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers.
Blood cells, molecules & diseasesCerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Frontiers in neurologyThe coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease.
The Turkish journal of pediatricsA Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.
Children (Basel, Switzerland)Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy.
Chinese medical journalHeat shock protein amplification improves cerebellar myelination in the Npc1nih mouse model.
EBioMedicineChanarin-Dorfman Syndrome: A Neutral Lipid Storage Disease With Ichthyosis and Liver Cirrhosis.
Journal of pediatric gastroenterology and nutritionCompound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
The American journal of case reportsFeatures of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease.
Frontiers in geneticsBlocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency.
Journal of lipid researchKnockdown of hepatocyte Perilipin-3 mitigates hepatic steatosis and steatohepatitis caused by hepatocyte CGI-58 deletion in mice.
Journal of molecular cell biologySpontaneous splenic rupture as the first clinical manifestation of Niemann-Pick disease type B: A case report and review of the literature.
Journal of clinical lipidologyNeutral lipid storage disease with myopathy: A 10-year follow-up case report.
European journal of translational myologyElevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.
Children (Basel, Switzerland)Gaucher disease - more than just a rare lipid storage disease.
Journal of molecular medicine (Berlin, Germany)Anti-Inflammatory Mesenchymal Stromal Cell-Derived Extracellular Vesicles Improve Pathology in Niemann-Pick Type C Disease.
BiomedicinesABHD5 frameshift deletion in Golden Retrievers with ichthyosis.
G3 (Bethesda, Md.)An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis.
JPGN reportsCerebral Palsy, COVID-19, and Neurolipidosis in an 18-Year-Old Female.
CureusInvolvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C.
Frontiers in cellular neuroscienceIdentification of Potential Biomarkers for Psoriasis by DNA Methylation and Gene Expression Datasets.
Frontiers in geneticsMaternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
GenesPsychosis symptoms associated with Niemann-Pick disease type C.
Psychiatric geneticsAchilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.
Case reports in rheumatologyRecurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.
European journal of translational myologyJordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
Fetal and pediatric pathologyPatients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Metabolic brain diseaseApoB-Specific CD4+ T Cells in Mouse and Human Atherosclerosis.
CellsCase Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy.
Frontiers in integrative neuroscienceCholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.
Journal of clinical lipidologyThe Relationship of Cholangiocarcinoma with Human Immunodeficiency Virus Cholangiopathy and Cytomegalovirus Infection.
European journal of case reports in internal medicineLate-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis.
European journal of case reports in internal medicineEarly onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.
Neuromuscular disorders : NMDEvaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1).
PloS oneNeutral lipid-storage disease with myopathy and Jordan anomaly.
NeurologyThe microscopic anatomy of endothelial cells in human atherosclerosis: Focus on ER and mitochondria.
Journal of anatomyCGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Advances in experimental medicine and biologyRecent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.
Advances in experimental medicine and biologyThe "discovery" of lipid droplets: A brief history of organelles hidden in plain sight.
Biochimica et biophysica acta. Molecular and cell biology of lipidsNeutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
European neurologyThirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.
European journal of translational myologyLevitating Cells to Sort the Fit and the Fat.
Advanced biosystemsUltrastructure of spinal anterior horn cells in human Niemann-Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes.
Pathology internationalCholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior.
International journal of molecular sciencesNeutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.
International journal of clinical and experimental pathologyNext-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
Clinical geneticsCoexistence or a related condition: an infant with retinoblastoma and Gaucher disease.
The Turkish journal of pediatricsAtherosclerosis: Beyond the lipid storage hypothesis. The role of autoimmunity.
European journal of clinical investigationClinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Orphanet journal of rare diseases[The value of muscle biopsy in rhabdomyolysis].
Zhonghua nei ke za zhiThe lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4.
Nature metabolismMiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
Muscle & nerveNeutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Orphanet journal of rare diseasesAnti-inflammatory therapy in atherosclerosis.
Frontiers in bioscience (Landmark edition)A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.
Genes & diseasesProximal muscle weakness.
Practical neurologyGallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature.
Fetal and pediatric pathologyActivated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies.
Chinese medical journalOptic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.
Case reports in neurological medicineNeutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
CellsClinical findings and autophagic pathology in neutral lipid storage disease with myopathy.
Clinical neuropathologyA case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.
Brain & developmentNeutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAdult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Orphanet journal of rare diseasesNovel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.
BMC medical geneticsLipid storage myopathies: Current treatments and future directions.
Progress in lipid researchExcessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney.
The Journal of pathologyLipid metabolism and carcinogenesis, cancer development.
American journal of cancer researchLysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.
The American journal of case reportsNeutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
Neuromuscular disorders : NMDPatients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
Clinical neurology and neurosurgeryPulmonary functions and sleep-related breathing disorders in lipid storage disease.
Sleep & breathing = Schlaf & AtmungTeaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease.
NeurologyRapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Molecular genetics and metabolismBilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
Journal of orthopaedic case reportsDietary intervention rescues myopathy associated with neurofibromatosis type 1.
Human molecular geneticsThalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.
Journal of clinical and diagnostic research : JCDRRole of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.
Journal of cytologyCerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAberrant activation of Cdc2/cyclin B1 is involved in initiation of cytoskeletal pathology in murine Niemann-Pick disease type C.
Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen banThe phospholipase PNPLA7 functions as a lysophosphatidylcholine hydrolase and interacts with lipid droplets through its catalytic domain.
The Journal of biological chemistryClinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
Metabolic brain diseaseMuscle MRI in neutral lipid storage disease (NLSD).
Journal of neurologyGeneration of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Molecular genetics and metabolismBilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous XanthomatosisA Case Report.
Journal of the American Podiatric Medical AssociationLate onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Neuromuscular disorders : NMDAnesthetic Management in a Child With Niemann-Pick Disease.
Iranian journal of pediatricsFTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyNiemann-Pick disease, type C and Roscoe Brady.
Molecular genetics and metabolism[Pathophysiology of cerebrotendinous xanthomatosis].
Rinsho shinkeigaku = Clinical neurologyCerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
Indian pediatricsBasic utility of Pentra series automated hematology analyzer for screening of Jordans' anomaly.
International journal of laboratory hematologyClinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy.
NeurologyAnalysis of lipid profile in lipid storage myopathy.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesRegulation of Hepatic Triacylglycerol Metabolism by CGI-58 Does Not Require ATGL Co-activation.
Cell reportsReduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Human molecular geneticsSpectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPCerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.
Journal of clinical orthopaedics and traumaCerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
Molecular genetics and metabolism reportsWhole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
International journal of cardiologySevere cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
International journal of cardiologyUncovering biologically significant lipid isomers with liquid chromatography, ion mobility spectrometry and mass spectrometry.
The AnalystNeutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.
Muscle & nerveGaucher Disease: Clinical, Biological and Therapeutic Aspects.
Pathobiology : journal of immunopathology, molecular and cellular biologyChanarin-Dorfman syndrome: A case report and review of the literature.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of GastroenterologyHypophagia and metabolic adaptations in mice with defective ATGL-mediated lipolysis cause resistance to HFD-induced obesity.
Proceedings of the National Academy of Sciences of the United States of AmericaChronic Liver Diseases in Children: Clinical Profile and Histology.
Journal of clinical and diagnostic research : JCDRBeyond vascular inflammation--recent advances in understanding atherosclerosis.
Cellular and molecular life sciences : CMLSAnother TLO in the Wall: Education and Control of T Cells in Atherosclerotic Arteries.
ImmunityA rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation.
Journal of pediatric endocrinology & metabolism : JPEM[Research advances in diagnosis and therapy of Niemann-Pick disease type C].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsDistinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.
International journal of cardiologyNovel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
Molecular genetics and metabolismSpinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.
The journal of spinal cord medicineChanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
European journal of medical geneticsCellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses.
JAMA dermatologyFulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Muscle & nerveAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença de armazenamento lipídico 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
Ela ocorre por defeitos genéticos em enzimas ou proteínas auxiliares que deveriam quebrar lipídios nos lisossomos celulares. Diversos genes estão envolvidos, como GBA1, GBA2, PNPLA2, ABHD5 e CYP27A1.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 7 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. (s.d.). Doença de armazenamento lipídico. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-de-armazenamento-lipidico
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença de armazenamento lipídico
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- fonte: MONDO
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- fonte: GARD (NIH)
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