SE-ATLAS

Anomalie de la bêta-oxydation péroxysomale Déficit en pyruvate déshydrogénase Myopathie à corps de polyglucosane type 1 Argininémie Glycogénose par déficit en glucose-6-phosphatase Syndrome GRACILE Glycogénose par déficit en maltase acide Glycogénose par déficit en enzyme branchante Glycogénose par déficit en enzyme débranchante Maladie de stockage du glycogène Acidose lactique congénitale type Saguenay-Lac-Saint-Jean Glycogénose par déficit en glycogène phosphorylase musculaire Déficit isolé en complex III Glycogénose par déficit en phosphorylase hépatique Syndrome de Leigh avec cardiomyopathie Glycogénose par déficit en phosphorylase kinase Syndrome de Leigh Glycogénose par déficit en phosphofructokinase musculaire Syndrome NARP Maladie des urines sirop d'érable Syndrome d'hypotonie-cystinurie type 1 TMEM70-related mitochondrial encephalo-cardio-myopathy Leber hereditary optic neuropathy Hyperammonemia due to N-acetylglutamate synthase deficiency Barth syndrome Mitochondrial DNA-related progressive external ophthalmoplegia Ornithine transcarbamylase deficiency Homocystinuria due to cystathionine beta-synthase deficiency Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Glycogen storage disease due to phosphoglycerate mutase deficiency Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Galactose epimerase deficiency Galactokinase deficiency Classic maple syrup urine disease Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Classic galactosemia Mild hyperphenylalaninemia Glycogen storage disease due to glycogen synthase deficiency MELAS MERRF Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Hyperinsulinism-hyperammonemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Mild phenylketonuria Carbamoyl-phosphate synthetase 1 deficiency Classic phenylketonuria Polyglucosan body myopathy type 2 Glycogen storage disease due to muscle beta-enolase deficiency Intermediate maple syrup urine disease Leber plus disease Pearson syndrome Fatal infantile lactic acidosis with methylmalonic aciduria Isolated complex I deficiency Carnitine palmitoyl transferase 1A deficiency Cardiomyopathy-hypotonia-lactic acidosis syndrome Carnitine palmitoyltransferase II deficiency Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Argininosuccinic aciduria Intermittent maple syrup urine disease Glutaryl-CoA dehydrogenase deficiency Fumaric aciduria Mitochondrial neurogastrointestinal encephalomyopathy Oxoglutaric aciduria Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Mitochondrial oxidative phosphorylation disorder Isovaleric acidemia Phenylketonuria Lysosomal disease Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Lipoic acid biosynthesis defect Medium chain acyl-CoA dehydrogenase deficiency Fanconi-Bickel syndrome Thiamine-responsive maple syrup urine disease Alpers-Huttenlocher syndrome Glycogen storage disease due to lactate dehydrogenase deficiency Mitochondrial disease Citrullinemia Severe X-linked mitochondrial encephalomyopathy Mitochondrial membrane transport disorder Classic organic aciduria Glycogen storage disease due to aldolase A deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Coenzyme Q10 deficiency Very long chain acyl-CoA dehydrogenase deficiency Disorder of urea cycle metabolism and ammonia detoxification Unspecified mitochondrial disorder Tyrosinemia type 1 Carnitin-Stoffwechselstörung Kearns-Sayre-Syndrom Succinat-Coenzym-Q-Reduktase-Mangel, isolierter Galaktosämie Glykogenose durch LAMP-2-Mangel Fabry-Syndrom