Catalog
Disorders of purine metabolism
Link to WHO Definition
Disorders of purine metabolism – http://id.who.int/icd/entity/1958565793
Parents
Children
- Deoxyguanosine kinase deficiency
- Familial juvenile hyperuricaemic nephropathy
- 3A10.1 Haemolytic anaemia due to adenosine deaminase excess
- Myoadenylate deaminase deficiency
- Phosphoribosyl pyrophosphate synthase 1 defects
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Inosine triphosphate pyrophosphohydrolase deficiency
- 5C55.00 Xanthinuria
- Adenylosuccinate lyase deficiency
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- Thiopurine S-methyltransferase deficiency
- FA25.0 Primary gout
- Severe combined immunodeficiency T- B- due to adenosine deaminase deficiency
- AICAR transformylase deficiency
- Adenosine monophosphate deaminase deficiency
- Adenine phosphoribosyltransferase deficiency