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-Mangel, atypische Form Propionazidämie 3-Hydroxy-Isobuttersäure-Krankheit Organoazidopathie, zerebrale L-2-Hydroxy-Glutarazidurie 2-Hydroxy-Glutarazidurie D-2-Hydroxy-Glutarazidurie Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel 3-Hydroxy-3-Methylglutarazidurie Ahornsirup-Krankheit, klassische Ahornsirup-Krankheit, intermediäre Carnitin-Palmitoyl-Transferase II-Mangel Organoazidopathie, klassische Organische Azidurie Verzweigte Aminosäuren-Stoffwechselstörung Canavan-Krankheit Alkaptonurie 3-Methylcrotonyl-CoA-Carboxylase-Mangel, isolierter 3-Methylglutaconazidurie Ahornsirup-Krankheit, Thiamin-responsive HSD10-Krankheit, infantiler Typ Aminosäure/organische Säuren-Stoffwechselstörung