Acyl-CoA oxidase deficiency
Medical condition / From Wikipedia, the free encyclopedia
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Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration).[1] It is caused by pathogenic variants in ACOX1, which codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA oxidase (ACOX1).[1] This specific enzyme is responsible for the breakdown of very long chain fatty acids (VLCFAs).[2]
Acyl-CoA oxidase deficiency | |
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Other names | ACOX1 deficiency |
Acyl CoA oxidase enzyme | |
Specialty | Medical genetics |
Defective function of the ACOX1 enzyme prevents proper breakdown of these VLCFAs, leading to accumulation and interference with the nervous system.[1][2] Acyl-CoA oxidase deficiency affects a person from birth, and most newborns affected with this condition will not survive past early childhood.[1] 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.[1] Most babies will learn to walk and begin speaking, before experiencing a rapid decline in motor function between the ages of 1 and 3.[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.[1][2] There is no cure for this condition, however there are a range of symptom-based treatments, used to provide supportive care.