Article
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
Neurology - 1 Dec 1997
Wexler I D, Hemalatha S G, McConnell J, Buist N R, Dahl H H, Berry S A, Cederbaum S D, Patel M S, Kerr D S
Abstract excerpt
Inborn errors of the pyruvate dehydrogenase complex (PDC) are associated with lactic acidosis, neuroanatomic defects, developmental delay, and early death. PDC deficiency is a clinically heterogeneous disorder, with most mutations located in the coding region of the X-linked alpha subunit of the first catalytic component, pyruvate dehydrogenase (E1). Treatment of E1 deficiency hs included cofactor replacement,...
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