Article
Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy.
Journal of inherited metabolic disease - 1 Jan 2022
Chatfield Kathryn C, Sparagna Genevieve C, Specht Kalyn S, Whitcomb Luke A, Omar Asma K, Miyamoto Shelley D, Wolfe Lisa M, Chicco Adam J
Abstract excerpt
Barth syndrome (BTHS) is an X-linked disorder that results from mutations in the TAFAZZIN gene, which encodes a phospholipid transacylase responsible for generating the mature form of cardiolipin in inner mitochondrial membranes. BTHS patients develop early onset cardiomyopathy and a derangement of intermediary metabolism consistent with mitochondrial disease, but the precise alterations in cardiac metabolism...
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