SE-ATLAS

Glutaryl-CoA-Dehydrogenase-Mangel Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung HSD10-Krankheit, neonataler Typ Phenylketonurie, milde Autismus-Epilepsie-Syndrom durch Verzweigtketten-Ketosäuredehydrogenase-Kinase-Mangel Malon- und Methylmalonazidurie, kombinierte Methylmalonazidämie mit Homocystinurie Ahornsirup-Krankheit, intermittierende Galaktose-Epimerase-Mangel Galaktosämie Aminoacylase-Mangel Galaktokinase-Mangel Multipler Carboxylase-Mangel Phenylketonurie, klassische Hyperphenylalaninämie/Phenylketonurie, Tetrahydrobiopterin-responsive D,L-2-Hydroxy-Glutarazidurie Enzephalopathie mit assoziiertem Aminoacylase 1-Mangel HSD10-Krankheit Galaktosämie, klassische Hyperphenylalaninämie, milde 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 L-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxy-3-methylglutaric aciduria Classic maple syrup urine disease Intermediate maple syrup urine disease Carnitine palmitoyltransferase II deficiency Classic organic aciduria Organic aciduria Disorder of branched-chain amino acid metabolism Canavan disease Alkaptonuria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria Thiamine-responsive maple syrup urine disease HSD10 disease, infantile type Disorder of amino acid and other organic acid metabolism