Preferred Label : Cystathioninuria;
ICD-11 definition : 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.;
ICD-11 synonym : Cystathione gamma-lyase deficiency; Gamma-cystathionase deficiency;
Origin ID : 1415819835;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
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.
