SE-ATLAS

2-hydroxyglutaric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria Alkaptonuria Aminoacylase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Beta-ketothiolase deficiency Canavan disease Carnitine palmitoyltransferase II deficiency Cerebral organic aciduria Classic galactosemia Classic maple syrup urine disease Classic organic aciduria Classic phenylketonuria Combined malonic and methylmalonic acidemia D,L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Disorder of amino acid and other organic acid metabolism Disorder of branched-chain amino acid metabolism Disorder of urea cycle metabolism and ammonia detoxification Galactokinase deficiency Galactose epimerase deficiency Galactosemia Glutaryl-CoA dehydrogenase deficiency HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type Intermediate maple syrup urine disease Intermittent maple syrup urine disease Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia L-2-hydroxyglutaric aciduria Maple syrup urine disease Methylmalonic acidemia with homocystinuria Methylmalonic acidemia without homocystinuria Mild hyperphenylalaninemia Mild phenylketonuria Multiple carboxylase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurological conditions associated with aminoacylase 1 deficiency Organic aciduria Phenylketonuria Propionic acidemia Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Thiamine-responsive maple syrup urine disease