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A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene
Author(s) -
Dey Runu,
Mine Manuele,
Desguerre Isabelle,
Slama Abdelhamid,
Van Den Berghe Loic,
Brivet Michèle,
Aral Bernard,
Marsac Cécile
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10478
Subject(s) - pyruvate dehydrogenase complex , lactic acidosis , mutation , leigh disease , encephalopathy , gene , medicine , biology , pathology , genetics , biochemistry , enzyme
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.