SE-ATLAS

Alpers-Huttenlocher syndrome Argininemia Argininosuccinic aciduria Barth syndrome Carbamoyl-phosphate synthetase 1 deficiency Cardiomyopathy-hypotonia-lactic acidosis syndrome Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Citrullinemia Classic galactosemia Classic maple syrup urine disease Classic organic aciduria Classic phenylketonuria Coenzyme Q10 deficiency Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Disorder of carnitine cycle and carnitine transport Disorder of urea cycle metabolism and ammonia detoxification Fabry disease Fanconi-Bickel syndrome Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Fatal infantile lactic acidosis with methylmalonic aciduria Fumaric aciduria GRACILE syndrome Galactokinase deficiency Galactose epimerase deficiency Galactosemia Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Homocystinuria due to cystathionine beta-synthase deficiency Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperinsulinism-hyperammonemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hypotonia-cystinuria type 1 syndrome Intermediate maple syrup urine disease Intermittent maple syrup urine disease Isolated complex I deficiency Isolated complex III deficiency Isolated succinate-CoQ reductase deficiency Isovaleric acidemia Kearns-Sayre syndrome Leber hereditary optic neuropathy Leber plus disease Leigh syndrome Leigh syndrome with cardiomyopathy Lipoic acid biosynthesis defect Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lysosomal disease MELAS MERRF Maple syrup urine disease Medium chain acyl-CoA dehydrogenase deficiency Mild hyperphenylalaninemia Mild phenylketonuria Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial disease Mitochondrial membrane transport disorder Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies NARP syndrome Ornithine transcarbamylase deficiency Oxoglutaric aciduria Pearson syndrome Peroxisomal beta-oxidation disorder Phenylketonuria Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Pyruvate dehydrogenase deficiency Severe X-linked mitochondrial encephalomyopathy Systemic primary carnitine deficiency TMEM70-related mitochondrial encephalo-cardio-myopathy Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Thiamine-responsive maple syrup urine disease Tyrosinemia type 1 Unspecified mitochondrial disorder Very long chain acyl-CoA dehydrogenase deficiency