title: Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
abstract: An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient's liver. We suggest that patients with B(12)-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications.
authors.affiliation: Reference Center for Inherited Metabolic Disorders, Hôpital Necker-Enfants Malades and Université Paris Descartes, 149 rue de Sèvres, 75743, Paris cedex 15, France. vassili.valaya@nck.aphp.fr
authors.forename: V
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: L
authors.initials: L
authors.lastname: Hubert
authors.forename: J F
authors.initials: JF
authors.lastname: Benoist
authors.forename: S
authors.initials: S
authors.lastname: Romano
authors.forename: J B
authors.initials: JB
authors.lastname: Arnoux
authors.forename: D
authors.initials: D
authors.lastname: Chrétien
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: F
authors.initials: F
authors.lastname: Fakhouri
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: A S
authors.initials: AS
authors.lastname: Lebre
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: Y
authors.initials: Y
authors.lastname: de Keyzer
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D002952:Citric Acid Cycle / Q000502:physiology; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D004579:Electron Transport / Q000502:physiology; D017809:Fatal Outcome; D006801:Humans; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D018482:Muscle, Skeletal / Q000473:pathology; D010085:Oxidative Phosphorylation; D014805:Vitamin B 12 / Q000627:therapeutic use* / Q000652:urine*
chemical_list: D004272:DNA, Mitochondrial; D008764:Methylmalonic Acid; D014805:Vitamin B 12