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Cystathioninuria

Cystathionase deficiency


Presentation

  • The results are presented in detail.[ncbi.nlm.nih.gov]
  • We present three patients from two apparently unrelated old colony Mennonite families, each of whom had the hepatocerebral form of MDS together with cystathioninuria.[ncbi.nlm.nih.gov]
  • Abstract Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria has also been found in patients with sympathetic tumors or with primary hepatic tumors.[ncbi.nlm.nih.gov]
  • Observations also are presented on excretion of cystathionine and other sulfur amino acids by patients with various types of liver disease. Received August 12, 1966. Accepted June 22, 1967.[pediatrics.aappublications.org]
  • Although the enzyme appears to be present in the tissues of affected persons, it is inactive until an excess of vitamin B 6 is available.[britannica.com]
Sucrose Intolerance
  • intolerance ) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria Lipid storage Sphingolipidoses / Gangliosidoses : GM2 gangliosidoses ( Sandhoff disease, Tay-Sachs disease ) - GM1 gangliosidoses - Mucolipidosis type[wikidoc.org]
Xanthoma
  • […] disease Neuronal ceroid lipofuscinosis ( Batten disease ) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease ( Wolman disease ) Other lipid Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma[wikidoc.org]

Treatment

  • Thirty-seven patients with clinical evidence of active neuroblastoma excreted elevated levels of cystathionine before treatment was initiated; six other patients showed cystathioninuria at some time during treatment with chemo- or radiotherapy.[ncbi.nlm.nih.gov]
  • The recoveries were 80-92.4% for cystathionine and 80-100% for perhydro-1,4-thiazepine-3,5-dicarboxylic acid after ion-exchange treatment. The results agreed well with those obtained using an amino acid analyser.[ncbi.nlm.nih.gov]
  • Serine dehydrase activity in rat liver was elevated to a strikingly high level following the treatment with triiodothyronine, and decreased markedly following thyroidectomy.[jstage.jst.go.jp]
  • The treatment, if any is available, varies depending on the category of cystathioninuria a patient has. The vitamin B6 – responsive form is best treated by an increased consumption of vitamin B6 .[en.wikipedia.org]
  • Cystathioninuria may prove to be a benign disorder requiring no treatment. Funding and Disclosures * From the departments of Pharmacology, Pathology and Paediatrics, University of British Columbia (address reprint requests to Dr.[nejm.org]

Prognosis

  • Our results indicate that absence of cystathioninuria correlates with an early clinical staging and thus with a favorable prognosis.[ncbi.nlm.nih.gov]

Etiology

  • Grütte Published 2004 in Zeitschrift für Kinderheilkunde DOI: 10.1007/BF00446345 A secondary cystathionuria was found in two children with liver disease (cirrhosis of unknown etiology, congenital biliary atresia), in one infant with hypercalcemia due[semanticscholar.org]

Epidemiology

  • Genatlas disease for CTH Gene cystathionuria Relevant External Links for CTH Genetic Association Database (GAD) CTH Human Genome Epidemiology (HuGE) Navigator CTH Atlas of Genetics and Cytogenetics in Oncology and Haematology: CTH Cloning and nucleotide[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Recent studies have shown that H2S is generated in vivo in human and animal organisms and that it participates in many pathophysiological processes.[eurekaselect.com]

Prevention

  • Vitamin C, 100 mg po once/day, may also be given to help prevent thromboembolism. Various defects in the remethylation process can result in homocystinuria.[merckmanuals.com]

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