Peroxisomal acyl-CoA oxidase deficiency
MONDO:0009919Peroxisomal 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.
Also known as: ACOX1 deficiency, Pseudoadrenoleukodystrophy, peroxisomal acyl-CoA oxidase deficiency, pseudo-NALD, pseudo-neonatal adrenoleukodystrophy, Pseudoneonatal adrenoleukodystrophy, straight-chain acyl-Coa oxidase deficiency
3 clinical trials for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Peroxisomal disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of peroxisomal beta oxidation
(0)