Gamma-cystathionase deficiency
Alternate names[edit | edit source]
Cystathioninuria
Definition[edit | edit source]
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.
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NIH genetic and rare disease info[edit source]
Gamma-cystathionase deficiency is a rare disease.
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