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 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 Disorder of carnitine cycle and carnitine transport Kearns-Sayre syndrome Isolated succinate-CoQ reductase deficiency Galactosemia Glycogen storage disease due to LAMP-2 deficiency Fabry disease