Conditions / Genetic
peroxisomal acyl-CoA oxidase deficiency
info · Genetic
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Signs and symptoms
- Hypotonia
- Reduced circulating acyl-CoA oxidase activity
- Severe intellectual disability
- Developmental regression
- Very long chain fatty acid accumulation
- Neonatal hypotonia
- Epicanthus
- Hypertelorism
- Depressed nasal bridge
- Low-set ears
Also known as: Peroxisomal acyl-coenzyme A oxidase