ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously. We report an 8-y-old male with intermittently ele...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2016-10, Vol.113 (40), p.11289-11293
Hauptverfasser:	Vilarinho, Sílvia, Sari, Sinan, Mazzacuva, Francesca, Bilgüvar, Kaya, Esendagli-Yilmaz, Güldal, Jain, Dhanpat, Akyol, Gülen, Dalgiç, Buket, Günel, Murat, Clayton, Peter T., Lifton, Richard P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia - complications Ataxia - enzymology Ataxia - genetics Bile Acids and Salts - biosynthesis Bile Acids and Salts - chemistry Biological Sciences Biosynthesis Child Cognitive Dysfunction - complications Cognitive Dysfunction - enzymology Cognitive Dysfunction - genetics Enzymes Fatty acids Homozygote Humans Immunohistochemistry Infant Infant, Newborn Liver - pathology Liver Cirrhosis - complications Liver Cirrhosis - enzymology Liver Cirrhosis - genetics Loss of Function Mutation - genetics Male Metabolism Mutation Mutation - genetics Oxidation-Reduction Oxidoreductases - deficiency Oxidoreductases - genetics Transaminases - metabolism
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