New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria
| Autor: | Pascale de Lonlay, Anne Vassault, Anne-Sophie Lebre, Agnès Rötig, Nathalie Boddaert, Coralie Haudry, Arnold Munnich, Valérie Cormier-Daire, Valérie Serre, Magalie Barth, Jean-Paul Bonnefont, Marlène Rio, Jean-Baptiste Arnoux, Daniel Rabier, Vassili Valayannopoulos |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Models Molecular Mitochondrial DNA Pathology medicine.medical_specialty Adolescent Respiratory Chain Deficiency Biology Basal Ganglia Mitochondrial Proteins Carnitine Succinate-CoA Ligases Basal ganglia medicine Animals Humans In patient Child Molecular Biology Genetics Genetic Diseases Inborn Infant Newborn Infant Cell Biology Magnetic Resonance Imaging Phenotype Protein Structure Tertiary Radiography Methylmalonic aciduria Child Preschool Molecular Medicine Female Metabolic profile Methylmalonic Acid medicine.drug |
| Zdroj: | Mitochondrion. 10:335-341 |
| ISSN: | 1567-7249 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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