title: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
abstract: We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.
authors.affiliation: INSERM U-12, Département de Pédiatrie Hôpital des Enfants-Malades, Paris, France.
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: D
authors.initials: D
authors.lastname: Chretien
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: B
authors.initials: B
authors.lastname: Robinson
authors.forename: A
authors.initials: A
authors.lastname: Vassault
authors.forename: J
authors.initials: J
authors.lastname: Aupetit
authors.forename: C
authors.initials: C
authors.lastname: Charpentier
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000140:Acidosis, Lactic / Q000151:congenital / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency*; D007657:Ketone Bodies / Q000097:blood; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid; D012008:Recurrence
chemical_list: D007657:Ketone Bodies; D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid; D007655:Ketoglutarate Dehydrogenase Complex