Article
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
European journal of pediatrics - 1 Feb 2005
Tulinius Már, Darin Niklas, Wiklund Lars-Martin, Holmberg Eva, Eriksson Jan Erik, Lissens Willy, De Meirleir Linda, Holme Elisabeth
Abstract excerpt
UNLABELLED: The pyruvate dehydrogenase complex (PDHc; McKusick 312170), localised in the mitochondrial matrix, is a multienzyme complex which converts pyruvate to acetyl-CoA. A deficiency of PDHc leads to inadequate removal of pyruvate and lactate resulting in lactic acidaemia and insufficient energy production. The major cause of PDHc deficiency is a defect in the E1alpha component. The gene of this component is...
Topics
- Amino Acid Substitution
- Brain
- Carnitine
- Child, Preschool
- Exons
- Humans
- Infant
- Lactic Acid
- Leigh Disease
- Magnetic Resonance Imaging
- Male
- Mutation
- Pyruvate Dehydrogenase (Lipoamide)