title: UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.
abstract: An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. Our study expands the few reported cases of CIII deficiency of nuclear origin.
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Gaignard
authors.affiliation: Pediatrics Department, Centre Hospitalier Haguenau, 64 Avenue du Pr Leriche, Haguenau, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Eyer
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Elise
authors.initials: E
authors.lastname: Lebigot
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Oliveira
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Patrice
authors.initials: P
authors.lastname: Therond
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Boutron
authors.affiliation: APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Slama
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D014450:Electron Transport Complex III / Q000172:deficiency / Q000235:genetics*; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D007003:Hypoglycemia; D007231:Infant, Newborn; D017093:Liver Failure; D028361:Mitochondrial Diseases; D009154:Mutation
chemical_list: D014450:Electron Transport Complex III