Enzymopathy

Parents (1)

• 75934005Metabolic disease disorder

Children (81)

• 4901300117 alpha-Hydroxyprogesterone aldolase deficiency disorder
• 544700083 beta-Hydroxysteroid dehydrogenase deficiency disorder
• 575140003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency disorder
• 4133560034-Hydroxyphenylpyruvate dioxygenase deficiency disorder
• 417970075,10-Methylenetetrahydrofolate reductase deficiency disorder
• 261320025-Oxoprolinase deficiency disorder
• 60414003Acquired lactase deficiency disorder
• 82319005Acyl-CoA dehydrogenase deficiency disorder
• 20756002Adult hypophosphatasia disorder
• 30188007Alpha-1-antitrypsin deficiency disorder
• 67845009Aminomethyltransferase deficiency disorder
• 709075008Aromatase excess syndrome disorder
• 55711009Arthrochalasia Ehlers-Danlos syndrome disorder
• 21529005Beta-aminoisobutyric aciduria disorder
• 90500005Carnitine palmitoyltransferase deficiency disorder
• 30174008Childhood hypophosphatasia disorder
• 44231009Cholesterol monooxygenase (side-chain cleaving) deficiency disorder
• 80231000119105Circulating enzyme deficiency disorder
• 398680004Citrullinaemia disorder
• 763212006Combined pancreatic lipase and colipase deficiency disorder
• 5388008Congenital lactase deficiency disorder
• 47757001Corticosterone 18-monooxygenase deficiency disorder
• 28259009Crigler-Najjar syndrome disorder
• 237987001Deficiency in enzyme complexes of mitochondrial respiratory chain disorder
• 3642008Deficiency of steryl-sulphatase disorder
• 58256000Dihydropteridine reductase deficiency disorder
• 238014002Dihydropyrimidinase deficiency disorder
• 77365006Dihydropyrimidine dehydrogenase deficiency disorder
• 423148005Disorder due to N-acetyltransferase enzyme variant disorder
• 23585005Disorder of lysosomal enzyme disorder
• 40278002Essential benign fructosuria disorder
• 190764000Essential pentosuria disorder
• 64235006Ethanolaminosis disorder
• 276265003Ferrochelatase deficiency disorder
• 28183005Fructose-biphosphatase deficiency disorder
• 78586005Gamma-glutamyl transpeptidase deficiency disorder
• 59761008Glutamate formiminotransferase deficiency disorder
• 21630007Glutathione S-transferase deficiency disorder
• 63329001Glycine dehydrogenase (decarboxylating) deficiency disorder
• 57835009Hepatic methionine adenosyltransferase deficiency disorder
• 20052008Hereditary fructosuria disorder
• 16242007Hereditary orotic aciduria disorder
• 61764000Homocarnosinase deficiency disorder
• 273700000Hyper-beta-carnosinaemia disorder
• 57119000Hyperammonaemia, type III disorder
• 698854006Hyperandrogenism due to non-classic 21-hydroxylase deficiency disorder
• 47719001Hypervalinaemia disorder
• 55236002Infantile hypophosphatasia disorder
• 22169002Intestinal disaccharidase deficiency disorder
• 56661000Intestinal enteropeptidase deficiency disorder
• 17885001Iodotyrosine deiodination defect disorder
• 87827003Isovaleryl-CoA dehydrogenase deficiency disorder
• 72945002Kynureninase deficiency disorder
• 29512005Lactase deficiency in diseases other than of the small intestine disorder
• 28821000119102Lysosomal storage disease disorder
• 27718001Maple syrup urine disease disorder
• 13144005Methylcrotonyl-CoA carboxylase deficiency disorder
• 28093001Methylene THF reductase deficiency AND homocystinuria disorder
• 9105005Muscle AMP deaminase deficiency disorder
• 287266002Muscle D-lactate dehydrogenase deficiency disorder
• 55783001Muscle L-lactate dehydrogenase deficiency disorder
• 61772003Muscle phosphoglycerate mutase deficiency disorder
• 38032004Nonpersistence of intestinal lactase disorder
• 80908008Ornithine carbamoyltransferase deficiency disorder
• 81685000Pancreatic alpha-amylase deficiency disorder
• 69478001Pancreatic colipase deficiency disorder
• 190687004Phenylketonuria disorder
• 17901006Primary hyperoxaluria disorder
• 61071003Proline dehydrogenase deficiency disorder
• 69080001Propionic acidaemia disorder
• 60743005Purine-nucleoside phosphorylase deficiency disorder
• 87694001Pyruvate carboxylase deficiency disorder
• 49748000SSADH (succinic semialdehyde dehydrogenase) deficiency disorder
• 64852002Sarcosine dehydrogenase deficiency disorder
• 45116002Sepiapterin reductase deficiency disorder
• 129456006Specific enzyme deficiency disorder
• 40873003Sulphite oxidase deficiency syndrome disorder
• 50658006Testosterone 17-beta-dehydrogenase deficiency disorder
• 89579000Tetrahydrofolate methyltransferase deficiency disorder
• 4887000Tyrosinaemia type 2 disorder
• 60952007Urocanate hydratase deficiency disorder