Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

Pediatrics International

Volumn 53, Issue 6, 2011, Pages 921-925

  Sakamoto, Osamu ^a   Ohura, Toshihiro ^a,b   Murayama, Kei ^e   Ohtake, Akira ^f   Harashima, Hiroko ^f   Abukawa, Daiki ^c   Takeyama, Junji ^d   Haginoya, Kazuhiro ^a   Miyabayashi, Shigeaki ^a   Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SENDAI CITY HOSPITAL   (Japan)

^c Department of General Pediatrics ^*  (Japan)

^d MIYAGI CHILDREN S HOSPITAL   (Japan)

^e CHIBA CHILDREN'S HOSPITAL   (Japan)

^f SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

lactic acidosis; methylmalonic acid; mitochondrial respiratory chain; SUCLA2; SUCLG1

Indexed keywords

METHYLMALONIC ACID; SUCCINIC ACID; SUCCINYL COENZYME A; SUCCINYL COENZYME A SYNTHETASE;

ARTICLE; CASE REPORT; ENZYME ANALYSIS; FEMALE; GENE; GENE MUTATION; HEARING IMPAIRMENT; HEART VENTRICLE HYPERTROPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; JAPANESE; LACTIC ACIDOSIS; LIVER BIOPSY; METHYLMALONIC ACIDURIA; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; SUCLG1 GENE; SUCLG2 GENE;

ACIDOSIS, LACTIC; ACYL COENZYME A; AMINO ACID METABOLISM, INBORN ERRORS; BLOTTING, WESTERN; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION;

EID: 84255168948     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2011.03412.x     Document Type: Article

References (11)

1. Fenton WA, Gravel RA, Rosenblatt DS,. Disorders of propionate and methylmalonate metabolism. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, 2001; 2165-93.
2. Ostergaard E,. Disorders caused by deficiency of succinate-CoA ligase. J. Inherit. Metab. Dis. 2008; 31: 226-9.
3. Elpeleg O, Miller C, Hershkovitz E, et al,. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 2005; 76: 1081-6. (Pubitemid 40705442)
4. Ostergaard E, Christensen E, Kristensen E, et al,. Deficiency of the alpha subunit of succinate-Coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 2007; 81: 383-7. (Pubitemid 47236085)
5. Ostergaard E, Schwartz M, Batbayli M, et al,. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur. J. Pediatr. 2010; 169: 201-5.
6. Valayannopoulos V, Haudry C, Serre V, et al,. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. Mitochondrion 2010; 10: 335-41.
7. Rivera H, Merinero B, Martinez-Pardo M, et al,. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Mitochondrion 2010; 10: 362-8.
8. Randolph LM, Jackson HA, Wang J, et al,. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder. Mol. Genet. Metab. 2011; 102: 149-52.
9. Rouzier C, Le Guédard-Méreuze S, Fragaki K, et al,. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J. Med. Genet. 2010; 47: 670-76.
10. Kaji S, Murayama K, Nagata I, et al,. Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. Mol. Genet. Metab. 2009; 97: 292-6.
11. Van Hove JL, Saenz MS, Thomas JA, et al,. Succinyl-CoA ligase deficiency: A mitochondrial hepatoencephalomyopathy. Pediatr. Res. 2010; 68: 159-64.