Catalog
Classical homocystinuria
No MMS code
Link to WHO Definition
Classical homocystinuria – http://id.who.int/icd/entity/1480749127
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is an autosomal recessively inherited disorder of methionine metabolism characterised by the multiple involvement of the eye (ectopia lentis), skeleton genu valgum and pes cavus), central nervous system intellectual deficit, psychiatric illness), and vascular system (thromboembolism).
Parents
- Genetic disorders of amino acid metabolism or transport affecting the skin
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- 5C50.B Disorders of methionine cycle or sulphur amino acid metabolism
- LD2E Syndromes with structural anomalies due to inborn errors of metabolism