A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene

Runu Dey; Manuele Mine; Isabelle Desguerre; Abdelhamid Slama; Loic Van Den Berghe; Michèle Brivet; Bernard Aral; Cécile Marsac

doi:10.1002/ana.10478

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene

Ann Neurol. 2003 Feb;53(2):273-7. doi: 10.1002/ana.10478.

Authors

Runu Dey¹, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Michèle Brivet, Bernard Aral, Cécile Marsac

Affiliation

¹ Laboratoire CERTO, CNRS UPR 1524, Faculté de Médecine Necker, Paris, France.

PMID: 12557299
DOI: 10.1002/ana.10478

Abstract

We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3-binding protein deficiency in a newborn girl. She had a severe encephalopathy, and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions. She died 35 days after birth. We detected a novel homozygous deletion (620delC) in the PDX1 gene, which encodes for the E3BP subunit of the pyruvate dehydrogenase complex.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acidosis, Lactic / congenital
Acidosis, Lactic / enzymology
Acidosis, Lactic / genetics*
Female
Gene Deletion*
Humans
Infant, Newborn
Infant, Newborn, Diseases / enzymology
Infant, Newborn, Diseases / genetics*
Polymorphism, Restriction Fragment Length
Pyruvate Dehydrogenase (Lipoamide) / genetics*
Pyruvate Dehydrogenase (Lipoamide) / metabolism
Pyruvate Dehydrogenase Complex / genetics
Pyruvate Dehydrogenase Complex / metabolism

Substances

Pyruvate Dehydrogenase Complex
Pyruvate Dehydrogenase (Lipoamide)
pyruvate dehydrogenase E1alpha subunit