Cystathioninuria

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.

Also known as: cystathionase deficiency, cystathioninuria, cystathioninuria (disease), gamma-cystathionase deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Cystathioninuria itself.