A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

作者：Ostergaard Elsebet^*; Schwartz Marianne; Batbayli Mustafa; Christensen Ernst; Hjalmarson Ola; Kollberg Gittan; Holme Elisabeth

来源：European Journal of Pediatrics, 2010, 169(2): 201-205.

DOI：10.1007/s00431-009-1007-z

• Methylmalonic aciduria
• SUCLG1
• SUCLA2
• tDNA depletion
• Encephalomyopathy
• Succinate-CoA ligase

Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis. We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations.

• 出版日期2010-2