A Doença do Corpo Poliglucosano do Adulto (APBD) é uma condição em que o corpo não consegue armazenar glicogênio corretamente, afetando adultos. Ela se manifesta com problemas progressivos nos nervos que controlam os músculos (os neurônios motores superiores e inferiores), dificuldades progressivas no controle da bexiga causadas por problemas nervosos, e problemas de memória, raciocínio e outras funções mentais que podem levar à demência.
Introdução
O que você precisa saber de cara
A Doença do Corpo Poliglucosano do Adulto (APBD) é uma condição em que o corpo não consegue armazenar glicogênio corretamente, afetando adultos. Ela se manifesta com problemas progressivos nos nervos que controlam os músculos (os neurônios motores superiores e inferiores), dificuldades progressivas no controle da bexiga causadas por problemas nervosos, e problemas de memória, raciocínio e outras funções mentais que podem levar à demência.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer (PubMed:26199317, PubMed:8463281, PubMed:8613547)
Glycogen storage disease 4
A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
Variantes genéticas (ClinVar)
305 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 123 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 corpos de poliglucosano do adulto
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
Laforin is the only known glycogen phosphatase. Mutations in the laforin gene lead to the fatal childhood dementia and progressive myoclonic epilepsy known as Lafora disease (LD). A hallmark of LD is aberrant, cytoplasmic, glycogen-like aggregates known as Lafora bodies. Surprisingly, recent reports indicate that overexpression of a phosphatase-deficient laforin mutant, with the catalytic cysteine mutated to serine (LCS), prevented the formation of Lafora bodies in a laforin KO mouse model. This finding led to questions regarding the biological relevance of laforin phosphatase activity and its role in LD etiology. In this study, we defined the in vitro and in vivo effects of the LCS mutation. LCS protein lacks catalytic activity but exhibits significantly higher binding to phosphate and long glucan chains compared with WT laforin. In addition, LCS exhibits altered dynamics via hydrogen-deuterium exchange mass spectrometry and interacts more robustly with its binding partners malin and protein targeting to glycogen. We demonstrate that these altered dynamics result in aberrant retention of the LCS protein in the brain of the LCS knock-in mouse model, compared with laforin levels in WT mice. To examine the metabolic consequences of these biophysical changes, we compared the brain metabolomic phenotypes of LCS mice to WT and laforin KO mice. Furthermore, LCS mice display a distinct and significant global perturbation in metabolism. These results indicate a key signaling role for glycogen phosphorylation in glycogen metabolism, revealing an important biological role for laforin catalytic phosphatase activity.
Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE1) deficiency, resulting in the accumulation of insoluble polyglucosan. The Gbe1ys/ys mouse model, carrying the p.Y329S variant, recapitulates features of adult-onset GSD IV, also known as adult polyglucosan body disease. However, the natural progression of the disease in this model is not fully understood. This study presents a longitudinal analysis of Gbe1ys/ys mice from 1 to 12 months of age, quantitatively tracking polyglucosan accumulation and correlating it with progressive histopathologic, motor, and behavioral changes. Polyglucosan bodies were detected as early as 1 month, with significant neurodegeneration and astrogliosis by 6 months. Notably, serum neurofilament light chain levels increased with disease progression, identifying neurofilament light chain as a potential noninvasive biomarker of neurodegeneration in GSD IV. Systemic involvement, including severe splenomegaly and gastrointestinal abnormalities, indicates broader effects of GBE1 deficiency beyond the central nervous system. These findings provide important insights into the natural history of GSD IV, establish key disease milestones for therapeutic intervention, and refine the clinical understanding of GSD IV and adult polyglucosan body disease.
Spatial mapping of the brain metabolome lipidome and glycome.
Metabolites, lipids, and glycans are fundamental but interconnected classes of biomolecules that form the basis of the metabolic network. These molecules are dynamically channeled through multiple pathways that govern cellular physiology and pathology. Here, we present a framework for the simultaneous spatial analysis of the metabolome, lipidome, and glycome from a single tissue section using mass spectrometry imaging. This workflow integrates a computational platform, the Spatial Augmented Multiomics Interface (Sami), which enables multiomics integration, high-dimensional clustering, spatial anatomical mapping of matched molecular features, and metabolic pathway enrichment. To demonstrate the utility of this approach, we applied Sami to evaluate metabolic diversity across distinct brain regions and to compare wild-type and Ps19 Alzheimer's disease (AD) mouse models. Our findings reveal region-specific metabolic demands in the normal brain and highlight metabolic dysregulation in the Ps19 model, providing insights into the biochemical alterations associated with neurodegeneration.
Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.
Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in GBE-1 gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. We report a 63-year-old woman with urinary incontinence, walking difficulty and episodes of forgetfulness. She had symmetrical limb weakness with upper motor neurone signs, distal sensory loss and a broad-based ataxic gait. MR scans of the brain and spine showed white matter changes with cerebellar and spinal cord atrophy. Sural nerve biopsy identified intra-axonal polyglucosan bodies. A multigene panel test identified a GBE-1 pathogenic variant, confirming the diagnosis of adult polyglucosan body disease. This case emphasises the importance of considering rare genetic disorders in people with autonomic dysfunction, mixed upper and lower motor neurone signs, peripheral neuropathy and cognitive impairment.
A 61-Year-Old Man With Weakness and Gait Dysfunction.
A man aged 61 years presented with chronic progressive weakness and gait dysfunction over a 4-year period. He had Ashkenazi Jewish ancestry and a history of memory loss, inappropriate laughter, dysarthria, and hypertension. Examination revealed impaired recall, extremity spasticity, distal sensory loss, and normal cerebellar function, and imaging showed hyperintensities in the periventricular white matter of the corticospinal tracts of the pons and medulla. What is your diagnosis?
Publicações recentes
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
Systemic Disease Progression and Neurodegeneration in the Gbe1(ys/ys) Mouse Model of Glycogen Storage Disease Type IV.
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.
📚 EuropePMC77 artigos no totalmostrando 64
The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
The Journal of biological chemistrySystemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.
The American journal of pathologyPredicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Molecular genetics and metabolismSplice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Nucleic acids researchSpatial mapping of the brain metabolome lipidome and glycome.
Nature communicationsClinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.
Frontiers in geneticsAdult polyglucosan body disease: ultrarare but commonly misdiagnosed.
Practical neurologyA 61-Year-Old Man With Weakness and Gait Dysfunction.
JAMA neurologyGlycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.
The EMBO journalDisorders with prominent posterior fossa involvement.
Handbook of clinical neurologyNeurological glycogen storage diseases and emerging therapeutics.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsNeuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyDevelopment of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.
Journal of the neurological sciencesProteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.
Neuropathology and applied neurobiologyClinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China.
Genes & diseasesBrainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.
AJNR. American journal of neuroradiologyAmylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism.
EMBO molecular medicineA United States-based patient-reported adult polyglucosan body disease registry: initial results.
Therapeutic advances in rare diseaseMyofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.
Acta neuropathologicaSpastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease.
Annals of Indian Academy of NeurologyCase report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
Frontiers in geneticsProteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.
Frontiers in neurologyCase 318: Adult Polyglucosan Body Disease.
RadiologyThe multifaceted roles of the brain glycogen.
Journal of neurochemistryNovel brain MRI clues to diagnose adult polyglucosan body disease - a commentary.
Neuromuscular disorders : NMDPolyglucosan body disease in an aged chimpanzee (Pan troglodytes).
Neuropathology : official journal of the Japanese Society of NeuropathologyRole of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.
CellsDiagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Molecular genetics and metabolismDistinct features in adult polyglucosan body disease: a case series.
Neuromuscular disorders : NMDAbundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
Neuropathology and applied neurobiologyPathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation.
International journal of molecular sciencesTwo Diseases-One Preclinical Treatment Targeting Glycogen Synthesis.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsAAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsLong-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
Molecular genetics and metabolismGlycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Brain : a journal of neurologyCharacterization of cognitive impairment in adult polyglucosan body disease.
Journal of neurologyAlleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
EMBO molecular medicineImproving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal of neurology, neurosurgery, and psychiatryTargeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsAdult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAdult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.
Hospital practice (1995)GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Journal of inherited metabolic diseaseAdult polyglucosan body disease - Management and evolution in an intensive rehabilitation program.
RehabilitacionGYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Annals of clinical and translational neurologySensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
The Journal of biological chemistryTriheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease.
Journal of the American College of NutritionAn update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Expert review of neurotherapeuticsSkeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Cell reportsAnalysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.
Molecular genetics and metabolism reportsGuaiacol as a drug candidate for treating adult polyglucosan body disease.
JCI insightAdulthood leukodystrophies.
Nature reviews. NeurologyA double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
Journal of inherited metabolic diseaseA novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
The Biochemical journalTriacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy.
Journal of lipid researchTeaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease.
NeurologyNeural correlates of adaptive working memory training in a glycogen storage disease type-IV patient.
Annals of clinical and translational neurologyNovel GBE1 mutation in a Japanese family with adult polyglucosan body disease.
Neurology. GeneticsAdult polyglucosan body disease presenting as a unilateral progressive plexopathy.
Muscle & nervePolyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
Muscle & nerveA novel mouse model that recapitulates adult-onset glycogenosis type 4.
Human molecular geneticsStructural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Human molecular geneticsFrequent misdiagnosis of adult polyglucosan body disease.
Journal of neurologyAdult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
Neuromuscular disorders : NMDDeep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
JAMA neurologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença de corpos de poliglucosano do adulto.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença de corpos de poliglucosano do adulto
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
- Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.
- Spatial mapping of the brain metabolome lipidome and glycome.
- Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.
- A 61-Year-Old Man With Weakness and Gait Dysfunction.
- Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
- Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
- Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
- Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:206583(Orphanet)
- OMIM OMIM:263570(OMIM)
- MONDO:0009897(MONDO)
- GARD:108(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q379038(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
