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Disease Peroxisomal Disorders

Name Peroxisomal Disorders
Synonyms Acidemia, Hyperpipecolic | Acidemias, Hyperpipecolic | Adrenoleukodystrophies, Neonatal | Adrenoleukodystrophy, Autosomal Neonatal Form | Adrenoleukodystrophy, Autosomal, Neonatal Form | Adrenoleukodystrophy, Neonatal | Dysfunction, General Peroxisomal | Dysfunction, Multiple Peroxisomal | Dysfunctions, General Peroxisomal | Dysfunction, Single Peroxisomal | Dysfunctions, Multiple Peroxisomal | Dysfunctions, Single Peroxisomal | General Peroxisomal Dysfunction | General Peroxisomal Dysfunctions | Hyperpipecolatemia | Hyperpipecolic Acidemia | Hyperpipecolic Acidemias | Multiple Peroxisomal Dysfunction | Multiple Peroxisomal Dysfunctions | Neonatal Adrenoleukodystrophies | Neonatal Adrenoleukodystrophy | Peroxisomal Disorder | Peroxisomal Dysfunction, General | Peroxisomal Dysfunction, Multiple | Peroxisomal Dysfunctions, General | Peroxisomal Dysfunction, Single | Peroxisomal Dysfunctions, Multiple | Peroxisomal Dysfunctions, Single | Single Peroxisomal Dysfunction | Single Peroxisomal Dysfunctions
Definition A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D018901
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes

Top ↑ Descendants

Peroxisomal Disorders Has associated chemicals Has associated genes
  Acatalasia Has associated chemicals Has associated genes
View node Adrenoleukodystrophy Has associated chemicals Has associated genes
  Bile acid synthesis defect, congenital, 4 Has associated chemicals Has associated genes
View node Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes
  Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
  Peroxisome Biogenesis Disorder, Complementation Group 1
  Peroxisome Biogenesis Disorder, Complementation Group 11
  Peroxisome Biogenesis Disorder, Complementation Group 12
  Peroxisome Biogenesis Disorder, Complementation Group 13
  Peroxisome Biogenesis Disorder, Complementation Group 14
  Peroxisome Biogenesis Disorder, Complementation Group 3
  Peroxisome Biogenesis Disorder, Complementation Group 4
  Peroxisome Biogenesis Disorder, Complementation Group 7
  Peroxisome Biogenesis Disorder, Complementation Group 9
  Peroxisome Biogenesis Disorder, Complementation Group D
  Peroxisome Biogenesis Disorder, Complementation Group E
  Peroxisome Biogenesis Disorder, Complementation Group G
  Peroxisome Biogenesis Disorder, Complementation Group H
  Peroxisome Biogenesis Disorder, Complementation Group J
  Peroxisome Biogenesis Disorder, Complementation Group K
  Peroxisome Biogenesis Disorder, Complementation Group R
  Peroxisome biogenesis disorders Has associated chemicals Has associated genes
View node Refsum Disease Has associated chemicals Has associated genes
  Refsum Disease, Infantile Has associated chemicals Has associated genes
View node Zellweger Syndrome Has associated chemicals Has associated genes