[Various forms of cystathioninuria].
Isolation and identification of cystathionine were the basis for the determination of the renal cystathionine excretion in healthy children. Pathologically increased urinary levels of cystathionine may reflect either an inherited enzyme defect, or transient impaired adaptation in premature infants, or a secondary phenomenon in neuroblastoma and certain liver disorders. Pyridoxine dependency was shown in a child with primary cystathioninuria. Urinary cystathionine concentration in premature newborns decreased when treated with pyridoxine. Secondary cystathioninuria was found in biliary atresia, cytomegalovirus infection, neuroblastoma, vitamin D intoxication and hyperglycinemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000209:etiology; D003540:Cystathionine / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000652:urine*; D011736:Pyridoxine / Q000627:therapeutic use
D003540:Cystathionine; D011736:Pyridoxine
Die verschiedenen Formen der Cystathioninurie.