ICD-10: E72.23

obsolete carbohydrate metabolism disease monogenic disease obsolete genetic disorder Danon disease Donohue syndrome congenital disorder of glycosylation type II glycogen storage disease XV Dent disease vitamin metabolic disorder ornithine translocase deficiency PHGDH deficiency PSAT deficiency PSPH deficiency glycogen metabolism disorder X-linked monogenic disease autosomal recessive disease autosomal genetic disease ARC syndrome cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency Kahrizi syndrome Perrault syndrome gamma-amino butyric acid metabolism disorder Smith-McCort dysplasia renal-hepatic-pancreatic dysplasia CEDNIK syndrome adenine phosphoribosyltransferase deficiency MEDNIK syndrome citrullinemia