Novel mutation in SUCLA2 identified on sequencing analysis

Gungor O., Ozkaya A. K. , Gungor G., Karaer K., Dilber C., Aydin K.

PEDIATRICS INTERNATIONAL, cilt.58, sa.7, ss.659-661, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Konu: 7
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/ped.12921
  • Sayfa Sayıları: ss.659-661


Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl-CoA synthase deficiency caused by an SUCLA2 defect.