Title : Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

Pub. Date : 2004 Jul

PMID : 15128923






1 Functional Relationships(s)
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1 Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. Isoleucine acetyl-CoA acetyltransferase 1 Homo sapiens