Peroxisomal Disorders

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.

Also Known As:

Peroxisomal Disorder; Adrenoleukodystrophy, Autosomal Neonatal Form; Adrenoleukodystrophy, Autosomal, Neonatal Form; Hyperpipecolatemia; Neonatal Adrenoleukodystrophy; Peroxisomal Dysfunction, General; Peroxisomal Dysfunction, Multiple; Peroxisomal Dysfunction, Single; Acidemia, Hyperpipecolic; Acidemias, Hyperpipecolic; Adrenoleukodystrophies, Neonatal; Dysfunction, General Peroxisomal; Dysfunction, Multiple Peroxisomal; Dysfunction, Single Peroxisomal; Dysfunctions, General Peroxisomal; Dysfunctions, Multiple Peroxisomal; Dysfunctions, Single Peroxisomal; General Peroxisomal Dysfunction; General Peroxisomal Dysfunctions; Hyperpipecolic Acidemias; Multiple Peroxisomal Dysfunction; Multiple Peroxisomal Dysfunctions; Neonatal Adrenoleukodystrophies; Peroxisomal Dysfunctions, General; Peroxisomal Dysfunctions, Multiple; Peroxisomal Dysfunctions, Single; Single Peroxisomal Dysfunction; Single Peroxisomal Dysfunctions; Adrenoleukodystrophy, Neonatal; Hyperpipecolic Acidemia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Peroxisomal Disorders: 504
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Peroxisomal Disorders: 504

4 congenital Bile acid synthesis defect

Disease Context: Research Results