SE-ATLAS

Peroxisomal beta-oxidation disorder Pyruvate dehydrogenase deficiency Polyglucosan body myopathy type 1 Argininemia Glycogen storage disease due to glucose-6-phosphatase deficiency GRACILE syndrome Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Glycogen storage disease due to muscle glycogen phosphorylase deficiency Isolated complex III deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Leigh syndrome with cardiomyopathy Glycogen storage disease due to phosphorylase kinase deficiency Leigh syndrome Glycogen storage disease due to muscle phosphofructokinase deficiency NARP syndrome Maple syrup urine disease Hypotonia-cystinuria type 1 syndrome 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 Anomalie de la phosphorylation oxydative mitochondriale Acidémie isovalérique Phénylcétonurie Maladie lysosomale Hyperphénylalaninémie/phénylcétonurie sensible à la tétrahydrobioptérine Défaut de biosynthèse de l'acide lipoïque Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne Syndrome de Fanconi-Bickel Maladie des urines sirop d'érable, forme sensible à la thiamine Syndrome d'Alpers-Huttenlocher Glycogénose par déficit en lactate déshydrogénase Maladie mitochondriale Citrullinémie Encéphalomyopathie mitochondriale sévère liée à l'X Anomalie de transport membranaire mitochondrial Acidurie organique classique Glycogénose par déficit en aldolase A musculaire Glycogénose avec cardiomyopathie sévère par déficit en glycogénine Déficit en coenzyme Q10 Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac Anomalie mitochondriale non spécifiée Tyrosinémie type 1 Trouble du cycle de la carnitine et du transport de la carnitine Syndrome de Kearns-Sayre Déficit isolé en succinate-CoQ réductase Galactosémie Glycogénose par déficit en LAMP-2 Maladie de Fabry