Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency describes a hereditary neurodegenerative disease. Characteristic features of the syndrome are seizures in the neonatal phase, hypotonia and neurological regression in infancy.

The course of the disease is characterized by hypotension and seizures prior to birth and neurological regression beginning between the ages of 1 and 3 years. At this time, epilepsy worsens, which can lead to inner ear hardship. Hypertension and hyperreflexia develop from the initial hypotonia. Some patients also suffer from polydactyly, hepatomegaly, strabismus, nystagmus and optic atrophy.

About half of those affected are born with a craniofacial dysmorphia. Hypertelorism, epicanthus, a flat nasal bridge and deep-seated ears are typical.

Autosomal recessive inherited mutations in the ACOX1 gene are the cause of PSEUDO-Nald.