New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

作者：Valayannopoulos Vassili; Haudry Coralie; Serre Valerie; Barth Magalie; Boddaert Nathalie; Arnoux Jean Baptiste; Cormier Daire Valerie; Rio Marlene; Rabier Daniel; Vassault Anne; Munnich Arnold; Bonnefont Jean Paul; de Lonlay Pascale; Roetig Agnes; Lebre Anne Sophie^*

来源：Mitochondrion, 2010, 10(4): 335-341.

DOI：10.1016/j.mito.2010.02.006

• SUCLG1 gene
• Methylmalonic aciduria
• Leigh-like encephalomyopathy
• Mitochondrial DNA depletion

Deficiencies in two subunits of the succinyl-coenzyme A synthetase (SCS) have been involved in patients with encephalomyopathy and mild methylmalonic aciduria (MMA). In this study, we described three new SUCLG1 patients and performed a meta-analysis of the literature. Our report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA and C4-DC carnitine in urines) and basal ganglia MRI lesions are the hallmarks of SCS defects. As mitochondrial DNA depletion in muscle is not a constant finding in SUCLG1 patients, this may suggest that diagnosis should not be based on it, but also that alternative physiopathological mechanisms may be considered to explain the combined respiratory chain deficiency observed in SCS patients.

• 出版日期2010-6