Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It typically manifests with episodic ketoacidosis. The presence of isoleucine‐derived metabolites is the key marker for biochemical diagnosis. To date,...

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Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Abdelkreem, Elsayed, Harijan, Rajesh K., Yamaguchi, Seiji, Wierenga, Rikkert K., Fukao, Toshiyuki
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Mutation Update
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6790690/
https://ncbi.nlm.nih.gov/pubmed/31268215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23831
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