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.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0019222
inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a
cystathionase deficiency
exact
cystathioninuria
exact
cystathioninuria (disease)
exact
gamma-cystathionase deficiency
exact
SPCC11E10.01