Um grupo de doenças genéticas raras, presentes desde o nascimento, que afetam a forma como o corpo processa as gorduras (metabolismo lipídico). Elas são causadas pela perda ou mau funcionamento dos peroxissomos, estruturas essenciais dentro das células. Os sinais e sintomas podem incluir atrasos no desenvolvimento, deficiência intelectual, características faciais peculiares, aumento do fígado e fraqueza muscular.
Introdução
O que você precisa saber de cara
A deficiência de alfa‑metilacil‑CoA racemase (AMACR) é um distúrbio que causa uma variedade de problemas neurológicos que começam na idade adulta e pioram lentamente. Pessoas com deficiência de AMACR podem apresentar perda gradual do funcionamento intelectual (declínio cognitivo), convulsões e enxaquecas. Elas também podem ter episódios agudos de disfunção cerebral (encefalopatia) semelhantes a AVC, envolvendo alteração da consciência e áreas de dano (lesões) no cérebro. Outras características da deficiência de AMACR podem incluir fraqueza e perda de sensação nos membros devido a dano nervoso (neuropatia sensorimotora), rigidez muscular (espasticidade) e dificuldade de coordenar os movimentos (ataxia). Problemas de visão causados pela deterioração da camada sensível à luz na parte posterior do olho (a retina) também podem ocorrer nessa condição.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUm grupo de doenças genéticas raras, presentes desde o nascimento, que afetam a forma como o corpo processa as gorduras (metabolismo lipídico). Elas são causadas pela perda ou mau funcionamento dos peroxissomos, estruturas essenciais dentro das células. Os sinais e sintomas podem incluir atrasos no desenvolvimento, deficiência intelectual, características faciais peculiares, aumento do fígado e fraqueza muscular.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 311 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 688 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
31 genes identificados com associação a esta condição.
Peroxisome biogenesis disorder complementation group 1
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Fanconi renotubular syndrome 3
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant.
Deafness, dystonia, and cerebral hypomyelination
An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging.
Rhizomelic chondrodysplasia punctata 2
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Refsum disease
A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment.
Peroxisomal fatty acyl-CoA reductase 1 disorder
An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
Adrenoleukodystrophy
A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
Congenital bile acid synthesis defect 5
An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.
Hyperoxaluria primary 1
An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.
D-bifunctional protein deficiency
Disorder of peroxisomal fatty acid beta-oxidation.
Peroxisome biogenesis disorder complementation group 12
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Alpha-methylacyl-CoA racemase deficiency
A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.
Spermatogenic failure 1
An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported.
Peroxisome biogenesis disorder 14B
An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed.
Peroxisome biogenesis disorder complementation group 14
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Rhizomelic chondrodysplasia punctata 3
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Mulibrey nanism
An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor.
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy.
Peroxisome biogenesis disorder complementation group 11
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group 5
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group 8
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group 13
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Adrenoleukodystrophy, pseudoneonatal
A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include intellectual disability, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.
Peroxisome biogenesis disorder complementation group 7
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group K
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder 2A
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Peroxisome biogenesis disorder complementation group 9
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group 4
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder complementation group 3
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Variantes genéticas (ClinVar)
831 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
31 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 peroxissomal
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Outros ensaios clínicos
13 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.
Naegleria fowleri, the brain-eating ameba, causes primary amebic meningoencephalitis (PAM), a fatal infectious disease that affects the central nervous system (CNS). We aimed to evaluate the functions and potential drugs targeting PAM using text mining and bioinformatics analyses. PAM-associated genes were identified using a disease database and mined from literature. To identify candidate drugs targeting PAM, 218 genes were analyzed using PanDrugs, drug Manually Annotated Targets and Drugs Online Resource (MATADOR), and the drug Comparative Toxicogenomics Database (CTD) by text mining. Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) functional analyses were performed to examine the mechanism of action of PAM. The GO functions of genes involved in PAM identified by text mining were leukocyte differentiation and the regulation of cytokine production. Disease-related PAM analyses indicated association with Zellweger syndrome, peroxisomal disease, periodontitis, and leishmaniasis. KEGG enrichment included pathways related to inflammatory bowel disease, malaria, interleukin (IL)-17 signaling pathway, Yersinia infection, Chagas disease, amebiasis, rheumatoid arthritis, pathogenic Escherichia coli infection, lipids, atherosclerosis, and peroxisomes. In addition, arsenic trioxide, bortezomib, dasatinib, bosutinib, bevacizumab, paclitaxel, midostaurin, tamoxifen, copanlisib, and pazopanib were identified as potential drugs targeting PAM using PanDrugs software. Our analyses revealed that text mining-related PAM genes were enriched in several pathways, such as peroxisomes and protein localization. We suggest that PAM is linked to other diseases, such as Zellweger's syndrome, leishmaniasis, and periodontitis, and provide potential drugs for effective treatment.
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.
Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood. In observational studies of women with adrenoleukodystrophy, several clinical rating scales have been used to assess disease manifestations and capture differences between asymptomatic and symptomatic women. To facilitate development of treatments to address symptoms in women, there is a need to identify clinical outcome measures that can sensitively assess disease progression and treatment responses. The goals of this scoping review were to: (1) identify and review clinically relevant assessment scales that have been utilized to capture disease manifestations in women with adrenoleukodystrophy, and (2) provide recommendations on key objectives for further research.
PEX39 facilitates the peroxisomal import of PTS2-containing proteins.
Peroxisomes are metabolic organelles essential for human health. Defects in peroxisomal biogenesis proteins (also known as peroxins (PEXs)) cause devastating disease. PEX7 binds proteins containing a type 2 peroxisomal targeting signal (PTS2) to enable their import from the cytosol into peroxisomes, although many aspects of this process remain enigmatic. Utilizing in vitro assays, yeast and human cells, we show that PEX39, a previously uncharacterized protein, is a cytosolic peroxin that facilitates the import of PTS2-containing proteins by binding PEX7 and stabilizing its interaction with cargo proteins containing a PTS2. PEX39 and PEX13, a peroxisomal membrane translocon protein, both possess an (R/K)PWE motif necessary for PEX7 binding. Handover of PEX7 from PEX39 to PEX13 via these motifs provides a new paradigm for peroxisomal protein import and biogenesis. Collectively, this work reveals how PEX39 and (R/K)PWE motifs facilitate the import of PTS2-containing proteins and advances our understanding of peroxisomal disease.
Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.
Peroxisomal Biogenesis Disorders Zellweger Spectrum (PBD-ZSD) disorders are a group of autosomal recessive defects in peroxisome formation that produce a multi-systemic disease presenting at birth or in childhood. Well documented clinical biomarkers such as elevated very long chain fatty acids (VLCFA) are key biochemical diagnostic findings in these conditions. Additional, secondary biochemical alterations such as elevated very long chain lysophosphatidylcholines are allowing newborn screening for peroxisomal disease. In addition, a more widespread impact on metabolism and lipids is increasingly being documented by metabolomic and lipidomic studies. Here we utilize Drosophila models of pex2 and pex16 as well as human plasma from individuals with PEX1 mutations. We identify phospholipid abnormalities in Drosophila larvae and brain characterized by differences in the quantities of phosphatidylcholine (PC) and phosphatidylethanolamines (PE) with long chain lengths and reduced levels of intermediate chain lengths. For diacylglycerol (DAG), the precursor of PE and PC through the Kennedy pathway, the intermediate chain lengths are increased suggesting an imbalance between DAGs and PE and PC that suggests the two acyl chain pools are not in equilibrium. Altered acyl chain lengths are also observed in PE ceramides in the fly models. Interestingly, plasma from human subjects exhibit phospholipid alterations similar to the fly model. Moreover, human plasma shows reduced levels of sphingomyelin with 18 and 22 carbon lengths but normal levels of C24. Our results suggest that peroxisomal biogenesis defects alter shuttling of the acyl chains of multiple phospholipid and ceramide lipid classes. In contrast, DAG species with intermediate fatty acids are actually more abundant in PBD. These data suggest an imbalance between de novo synthesis of PC and PE through the Kennedy pathway and remodeling of existing PC and PE through the Lands cycle. This imbalance is likely due to overabundance of very long acyl chains in PBD and a subsequent imbalance due to substrate channeling effects. Given the fundamental role of phospholipid and sphingolipids in nervous system functions, these observations suggest PBD-ZSD are diseases characterized by widespread cell membrane lipid abnormalities.
Impaired Kidney Function With Kidney Tubular Vacuolization and Crystals in Adult Refsum Disease: A Case Report.
Adult Refsum disease is a rare hereditary peroxisomal disorder characterized by impaired phytanic acid metabolism. The accumulation of phytanic acid in tissues, especially adipose and neural, is believed to contribute to disease manifestations. Clinically apparent kidney dysfunction has been reported in only 2 cases. We describe a 55-year-old woman with adult Refsum disease, who was referred to nephrology for impaired kidney function without proteinuria. Kidney biopsy showed vacuolization of proximal tubular epithelium and unremarkable glomeruli. Focally, distal tubular cytoplasm showed variably sized crystals with ultrastructural laminated substructures (or "paracrystalline formation"). To the best of our knowledge, the light microscopy for these crystals in a peroxisomal disease has not been previously described, and adult Refsum disease has not been described as a significant metabolic kidney disorder. These unique morphologic features contribute to the spectrum of findings in this rare genetic condition. This case also demonstrates the value of kidney function monitoring and therapeutic plasma exchange for these patients.
Publicações recentes
Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.
Impaired Kidney Function With Kidney Tubular Vacuolization and Crystals in Adult Refsum Disease: A Case Report.
PEX39 facilitates the peroxisomal import of PTS2-containing proteins.
Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.
📚 EuropePMC28 artigos no totalmostrando 45
Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.
Analytical cellular pathology (Amsterdam)Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.
Annals of clinical and translational neurologyImpaired Kidney Function With Kidney Tubular Vacuolization and Crystals in Adult Refsum Disease: A Case Report.
Kidney medicinePEX39 facilitates the peroxisomal import of PTS2-containing proteins.
Nature cell biologyDrosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.
PloS one[A clinical case of X-linked adrenoleukodystrophy].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaPeroxisomal leukodystrophy.
Handbook of clinical neurologySH-SY5Y cells undergo changes in peroxisomal metabolism when exposed to decanoic acid.
Journal of neurochemistryImbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Brain : a journal of neurologyDicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Molecular genetics and metabolismExploratory study of autophagy inducer sirolimus for childhood cerebral adrenoleukodystrophy.
Frontiers in pediatricsAbcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.
Acta neuropathologica communicationsVitamin D status and latitude predict brain lesions in adrenoleukodystrophy.
Annals of the Child Neurology SocietyEvaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Molecular genetics and metabolismPeroxisomal defects in microglial cells induce a disease-associated microglial signature.
Frontiers in molecular neuroscienceEvaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism.
Acta neurologica BelgicaGlycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy.
Scientific reportsGeneration of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair.
Stem cell researchVery long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesNewly defined peroxisomal disease with novel ACBD5 mutation.
Journal of pediatric endocrinology & metabolism : JPEMNovel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.
Child neurology open[X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation].
Andes pediatrica : revista Chilena de pediatriaDiagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report.
World journal of clinical casesTwo Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review.
Frontiers in pediatricsA Novel Mutation in PEX11β Gene.
Iranian journal of child neurologyAnti-oxidant MitoQ rescue of AWB chemosensory neuron impairment in a C. elegans model of X-linked Adrenoleukodystrophy.
microPublication biologySpastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Molecular genetics & genomic medicineHematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism.
Frontiers in pediatricsClinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy.
Experimental and therapeutic medicineChinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Parkinsonism & related disordersRapid liquid chromatography-tandem mass spectrometry to determine very-long-chain fatty acids in human and to establish reference intervals for the Chinese population.
Clinica chimica acta; international journal of clinical chemistryChondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders.
Pediatric neurologyLate onset adrenoleukodystrophy: A review related clinical case report.
eNeurologicalSciUnusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy.
Pediatric neurology[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder].
Revista de neurologiaExpanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.
Journal of human genetics[X-linked adrenoleukodystrophy with an atypical radiological pattern].
Revista de neurologiaIdentification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
Journal of medical case reportsType 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
Journal of pediatric endocrinology & metabolism : JPEMNovel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Investigative ophthalmology & visual scienceDetection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
Molecular genetics and metabolismPhytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease.
Pediatric researchA novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
BMC neurologyViolent death in a rare peroxisomal disease--Zellweger syndrome.
Forensic science internationalActivation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença peroxissomal 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
Trata-se de um conjunto de doenças genéticas raras presentes desde o nascimento que comprometem os peroxissomos, estruturas celulares vitais para metabolizar gorduras. Esse mau funcionamento celular costuma gerar atrasos no desenvolvimento, dificuldades intelectuais e alterações no fígado.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 6 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 peroxissomal. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-peroxissomal
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Doença peroxissomal
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
