title: A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
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.
authors.affiliation: Laboratoire CERTO, CNRS UPR 1524, Faculté de Médecine Necker, Paris, France.
authors.forename: Runu
authors.initials: R
authors.lastname: Dey
authors.forename: Manuele
authors.initials: M
authors.lastname: Mine
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Slama
authors.forename: Loic
authors.initials: L
authors.lastname: Van Den Berghe
authors.forename: Michèle
authors.initials: M
authors.lastname: Brivet
authors.forename: Bernard
authors.initials: B
authors.lastname: Aral
authors.forename: Cécile
authors.initials: C
authors.lastname: Marsac
mesh_terms: D000140:Acidosis, Lactic / Q000151:congenital / Q000201:enzymology / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000201:enzymology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000235:genetics* / Q000378:metabolism; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics / Q000378:metabolism
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit