Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Inborn disorder of amino acid metabolism · Inborn disorder of methionine cycle and sulfur amino acid metabolism
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.
This condition has no sub-types.