| Entry |
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| Name |
Peroxisomal acyl-CoA oxidase deficiency |
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| Supergrp |
Peroxisomal beta-oxidation enzyme deficiency [DS: H00407] |
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| Description |
Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.
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| Category |
Congenital disorder of metabolism
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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Peroxisomal diseases
H02096 Peroxisomal acyl-CoA oxidase deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C57 Peroxisomal diseases
H02096 Peroxisomal acyl-CoA oxidase deficiency
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| Pathway |
| hsa01040 Biosynthesis of unsaturated fatty acids | |
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| Network |
nt06021 beta-Oxidation in peroxisome |
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| Element |
| N00778 | ACOX1 deficiency in beta-oxidation |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E |
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| Title |
Peroxisomal acyl-CoA-oxidase deficiency: two new cases. |
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| Journal |
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| Reference |
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| Authors |
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR |
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| Title |
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. |
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| Journal |
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| LinkDB |
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