Human genes for cystathioninuria
Cystathioninuria [DOID:0090142]
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.
Synonyms: cystathioninuria, cystathioninurias, DOID:0090142, cystathionase deficiency, cystathione gamma-lyase deficiency syndrome ...