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

Abstract	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.
Authors	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
Journal	Mitochondrion (Mitochondrion) Vol. 10 Issue 4 Pg. 335-41 (Jun 2010) ISSN: 1872-8278 [Electronic] Netherlands
PMID	20197121 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Copyright	Copyright 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.
Chemical References	Mitochondrial Proteins Methylmalonic Acid Succinate-CoA Ligases Carnitine
Topics	Adolescent Animals Basal Ganglia (diagnostic imaging, pathology) Carnitine (analogs & derivatives, urine) Child Child, Preschool Female Genetic Diseases, Inborn (diagnosis, pathology) Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Methylmalonic Acid (urine) Mitochondrial Proteins (deficiency) Models, Molecular Protein Structure, Tertiary Radiography Succinate-CoA Ligases (deficiency)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!