title: Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
abstract: BACKGROUND
  Succinyl-coenzyme A ligase (SUCL) is a mitochondrial enzyme that catalyses the reversible conversion of succinyl-coenzyme A to succinate. SUCL consists of an α subunit, encoded by SUCLG1, and a β subunit, encoded by either SUCLA2 or SUCLG2. Recently, mutations in SUCLG1 or SUCLA2 have been identified in patients with infantile lactic acidosis showing elevated urinary excretion of methylmalonate, mitochondrial respiratory chain (MRC) deficiency, and mitochondrial DNA depletion.
  
  
  METHODS
  Case description of a Japanese female patient who manifested a neonatal-onset lactic acidosis with urinary excretion of methylmalonic acid. Enzymatic analyses (MRC enzyme assay and Western blotting) and direct sequencing analysis of SUCLA2 and SUCLG1 were performed.
  
  
  RESULTS
  MRC enzyme assay and Western blotting showed that MRC complex I was deficient. SUCLG1 mutation analysis showed that the patient was a compound heterozygote for disease-causing mutations (p.M14T and p.S200F).
  
  
  CONCLUSIONS
  For patients showing neonatal lactic acidosis and prolonged mild methylmalonic aciduria, MRC activities and mutations of SUCLG1 or SUCLA2 should be screened for.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. osakamoto-thk@umin.ac.jp
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.forename: Hiroko
authors.initials: H
authors.lastname: Harashima
authors.forename: Daiki
authors.initials: D
authors.lastname: Abukawa
authors.forename: Junji
authors.initials: J
authors.lastname: Takeyama
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Miyabayashi
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D000214:Acyl Coenzyme A / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation
chemical_list: D000214:Acyl Coenzyme A; D004247:DNA; C012046:succinyl-coenzyme A