cystathioninuria (DOID:0090142)
Alliance: disease page
Synonyms: cystathionase deficiency; cystathione gamma-lyase deficiency syndrome; gamma-cystathionase deficiency
Alt IDs: OMIM:219500, ICD10CM:E72.19, MESH:C535408, NCI:C129070, ORDO:212, UMLS_CUI:C0220993, UMLS_CUI:C0268616
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.