Catalog

Cystathioninuria

No MMS code

Link to WHO Definition

Cystathioninuria – http://id.who.int/icd/entity/1415819835

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.