SE-ATLAS

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Isolated complex I deficiency Lipoic acid biosynthesis defect Pearson syndrome Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Coenzyme Q10 deficiency Leigh syndrome with cardiomyopathy Phenylketonuria Osteogenesis imperfecta Isobutyryl-CoA dehydrogenase deficiency Classic organic aciduria Citrullinemia Disorder of urea cycle metabolism and ammonia detoxification Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Dilated cardiomyopathy with ataxia Fumaric aciduria Ornithine transcarbamylase deficiency Methylmalonic acidemia with homocystinuria Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Mitochondrial disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hyperammonemia due to N-acetylglutamate synthase deficiency Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Isovaleric acidemia Mild hyperphenylalaninemia Propionic acidemia MELAS Hyperinsulinism-hyperammonemia syndrome MERRF Alpers-Huttenlocher syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Argininemia Kearns-Sayre syndrome Mitochondrial oxidative phosphorylation disorder Combined malonic and methylmalonic acidemia 3-methylglutaconic aciduria type 1 Leber hereditary optic neuropathy Mitochondrial membrane transport disorder 3-methylglutaconic aciduria Methylmalonic acidemia without homocystinuria Barth syndrome Unspecified mitochondrial disorder Severe X-linked mitochondrial encephalomyopathy Leigh syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Pyruvate dehydrogenase deficiency NARP syndrome Beta-ketothiolase deficiency 3-methylcrotonyl-CoA carboxylase deficiency Leber plus disease Isolated succinate-CoQ reductase deficiency Achondroplasia Fatal infantile lactic acidosis with methylmalonic aciduria Carbamoyl-phosphate synthetase 1 deficiency 3-hydroxy-3-methylglutaric aciduria Multiple carboxylase deficiency Phénylcétonurie modérée Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial Phénylcétonurie classique Acidurie argininosuccinique Encéphalopathie myo-neuro-gastrointestinale Encéphalo-cardio-myopathie mitochondriale associée à TMEM70 Acidurie 3-hydroxyisobutyrique Déficit en 2-méthylbutyryl-CoA déshydrogénase Déficit isolé en complex III Syndrome MEGDEL