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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.

Journal article
Authors Mar Tulinius
Niklas Darin
Lars-Martin Wiklund
Eva Holmberg
Jan Erik Eriksson
Willy Lissens
Linda De Meirleir
Elisabeth Holme
Published in European journal of pediatrics
Volume 164
Issue 2
Pages 99-103
ISSN 0340-6199
Publication year 2005
Published at Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Institute for the Health of Women and Children, Dept of Paediatrics
Pages 99-103
Language en
Keywords Amino Acid Substitution, Brain, pathology, Carnitine, blood, Child, Preschool, Exons, Humans, Infant, Lactic Acid, blood, Leigh Disease, genetics, Magnetic Resonance Imaging, Male, Mutation, Pyruvate Dehydrogenase (Lipoamide), genetics, Pyruvate Dehydrogenase Complex Deficiency Disease, genetics, Pyruvic Acid, blood, Siblings
Subject categories Medical and Health Sciences


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 localised to Xp22.1. We describe two brothers with a relatively mild clinical phenotype of PDHc deficiency. Onset of disease was associated with muscle weakness and swallowing difficulties in both. At follow-up, the older brother developed encephalopathic features consistent with Leigh syndrome. Lactate to pyruvate ratios were low, consistent with a PDHc deficiency which was confirmed by measurements of PDHc activity in thrombocytes. A 407C>T change in exon 4 of the E1alpha gene was found in both brothers and their mother. This substitution predicts a replacement of a conserved alanine at position 136 by valine. CONCLUSION: Due to the X-linked inheritance pattern combined with the overall results of clinical investigations, molecular genetic findings and a corresponding functional deficiency of the gene product we believe that this substitution in the pyruvate dehydrogenase E1alpha gene is a mutation leading to pyruvate dehydrogenase complex deficiency in this family.

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