Thiamine-Responsive Congenital Lactic Acidosis Without MC

Abstract

Six infants with thiamine-responsive congenital lactic acidosis (CLA), normal pyruvate dehydrogenase complex activity, and no evidence of mitochondrial encephalomyopathy, are reported from Tottori University, Yonago; National Children’s Medical Center, Tokyo, and other centers in Japan.

Keywords

• congenital lactic acidosis
• mitochondrial encephalomyopathy
• cardiomyopathy