Term Name:	cystathioninuria
Synonyms:	cystathionase deficiency, cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency
Definition:	An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
Ontology:	Human Disease [DOID:0090142]   ( DOID:0090142 )