SE-ATLAS

Glutaryl-CoA dehydrogenase deficiency Disorder of urea cycle metabolism and ammonia detoxification HSD10 disease, neonatal type Mild phenylketonuria Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Combined malonic and methylmalonic acidemia Methylmalonic acidemia with homocystinuria Intermittent maple syrup urine disease Galactose epimerase deficiency Galactosemia Aminoacylase deficiency Galactokinase deficiency Multiple carboxylase deficiency Classic phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria D,L-2-hydroxyglutaric aciduria Neurological conditions associated with aminoacylase 1 deficiency HSD10 disease Classic galactosemia Mild hyperphenylalaninemia Beta-ketothiolase deficiency 2-methylbutyryl-CoA dehydrogenase deficiency Methylmalonic acidemia without homocystinuria Isovaleric acidemia Maple syrup urine disease Phenylketonuria Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Isobutyryl-CoA dehydrogenase deficiency HSD10 disease, atypical type Propionic acidemia 3-hydroxyisobutyric aciduria Cerebral organic aciduria Acidurie L-2-hydroxyglutarique Acidurie 2-hydroxyglutarique Acidurie D-2-hydroxyglutarique Neurodégénérescence par déficit en 3-hydroxyisobutyryl-CoA hydrolase Acidurie 3-hydroxy-3-méthylglutarique Maladie des urines sirop d'érable, forme classique Maladie des urines sirop d'érable, forme intermédiaire Déficit en carnitine palmitoyltransférase II Acidurie organique classique Acidurie organique Trouble du métabolisme des acides aminés à chaînes ramifiées Maladie de Canavan Alcaptonurie Déficit en 3-méthylcrotonyl-CoA carboxylase Acidurie 3-méthylglutaconique Maladie des urines sirop d'érable, forme sensible à la thiamine Maladie HSD10 type infantile Trouble du métabolisme des acides aminés et autres acides organiques