Vassili Valayannopoulos, Coralie Haudry, Valérie Serre, Magalie Barth, Nathalie Boddaert, Jean-Baptiste Arnoux, Valérie Cormier-Daire, Marlène Rio, Daniel Rabier, Anne Vassault, Arnold Munnich, Jean-Paul Bonnefont, Pascale de Lonlay, Agnès Rötig, Anne-Sophie Lebre
Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.
Mitochondrion 2010 JunDeficiencies 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. Copyright 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.
Vassili Valayannopoulos, Coralie Haudry, Valérie Serre, Magalie Barth, Nathalie Boddaert, Jean-Baptiste Arnoux, Valérie Cormier-Daire, Marlène Rio, Daniel Rabier, Anne Vassault, Arnold Munnich, Jean-Paul Bonnefont, Pascale de Lonlay, Agnès Rötig, Anne-Sophie Lebre. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. Mitochondrion. 2010 Jun;10(4):335-41
PMID: 20197121
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