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peroxisomal acyl-CoA oxidase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Uniprot Description A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, 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.
Disease Ontology Description A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Mondo Term and Equivalent IDs
MONDO:0009919:  peroxisomal acyl-CoA oxidase deficiency
GARD:0004543: 
MESH:C536662: 
Orphanet:2971: 
SCTID:238069004: 
UMLS:C1849678: