<unk>  is a rare disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration). It is caused by pathogenic variants in ACOX1, which codes for the production of an enzyme called peroxisomal straight-chain<unk> -CoA<unk>  (ACOX1). This specific enzyme is responsible for the breakdown of very long chain fatty acids (VLCFAs). Defective function of the ACOX1 enzyme prevents proper breakdown of these VLCFAs, leading to accumulation and interference with the nervous system.<unk>  affects a person from birth, and most newborns affected with this condition will not survive past early childhood. Affected individuals can be born with hypotonia, seizures, and dysmorphic features, such as widely spaced eyes, a low nasal bridge and low set ears. Polydactyly and hepatomegaly have also been described. Most babies will learn to walk and begin speaking, before experiencing a rapid decline in motor function between the ages of 1 and 3. As the person ages, and the conditions worsens, they begin to experience exaggerated reflexes (hyperreflexia), more severe and frequent seizures, and gradual loss of vision and hearing. There is no cure for this condition, however there are a range of symptom-based treatments, used to provide supportive care.
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