OnlineIMD

13.1    Disorders of metabolite repair

  • Type
    Group
  • Disease group(s)
    • 13    Miscellaneous disorders of intermediary metabolism
  • Child entries
    • D-2-hydroxyglutaric aciduria type 1
    • Glycogen storage disease type 1b
    • L-2-hydroxyglutaric aciduria
    • Combined malonic and methylmalonic aciduria
    • Ubiquitous glucose-6-phosphatase deficiency
    • NAD(P)HX dehydratase deficiency
    • NAD(P)HX epimerase deficiency