Disease or Syndrome
cystathioninuria
Definitions related to cystathioninuria:
  • An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • An elevated urinary concentration of cystathionine.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2021
  • Cystathioninuria, metabolic disorder involving the amino acid methionine. Cystathioninuria generally is hereditary in nature but also may occur in association with certain diseases of the kidneys or liver, with certain types of tumours, or with pyridoxine deficiency (a type of vitamin B6...
    Encyclopedia Britannica
    Encyclopedia Britannica, Inc., 2020
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