| PSEUDONEONATAL ADRENOLEUKODYSTROPHY | |
| PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; ACOX1 | |
|
264470
OMIM = Online Mendelian Inheritance of Men | |
|
2971 | |
| Peroxisomal acyl-coenzyme A oxidase 1 (ACOX1) | |
| 1.3.3.6 | |
| rare (>20 cases) autosomal recessive | |
| Laboratory findings | Peroxisomal Acyl-CoA oxidase () Very-long-chain fatty acid oxidation () Very-long-chain fatty acids inc (serum) |
| Symptoms | behavior, autism or autistic-like clubfoot dysmorphism dysphagia dystonia EEG abnormalities [-] epiphyseal and periarticular calcific stippling hearing defect, deafness hepatomegaly (large liver) hypertonia, spasticity hypotonia inverted nipples irritability leukoencephalopathy liver involvement or dysfunction low set ears mental retardation neurological deterioration nystagmus onset, infancy optic atrophy Peroxisomes, liver retinitis pigmentosa seizures strabismus |