<unk>  is an autosomal recessive disorder that is caused by biallelic pathogenic variants in ACOX1. This is the gene that codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA<unk>  which is responsible for the breakdown of VLCFAs. It is not completely clear how the build-up of these VLCFAs causes the symptoms seen with this condition, however research suggests that this abnormal accumulation triggers an inflammation in the nervous system which leads to demyelination. Demyelination leads to the loss of white matter, leukodystrophy, in the brain and spinal cord. It is this leukodystrophy that is related to the development of neurological abnormalities in people with<unk> .<unk>  is an extremely rare condition.
Acyl-CoA oxidase deficiency
2,4 Dienoyl-CoA reductase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Carnitine-acylcarnitine translocase deficiency
Pyruvate kinase deficiency
Malonyl-CoA decarboxylase deficiency