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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]
  • 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]
  • The use of amino acids to improve the quality and safety of the diet is presented. Also discussed are amino acid precursors of biogenic amines and the role of amino acids in atherosclerosis, cancer, and immunity.[books.google.com]
  • 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]
Amyloidosis
  • Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly Glycoprotein Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis[wikidoc.org]
Turkish
  • Castilian) Pronunciation Spanish (Castilian) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Mexico) Pronunciation Swedish Pronunciation Swedish Pronunciation Turkish[pronouncekiwi.com]
Distractibility
  • 10 tips to clear your brain fog. 12 reasons you're distracted. Exercises for your joints. Each one takes 10 minutes or less. Revitalize your life. WebMD the app Get trusted health information. Whenever. Wherever... with your iPhone, iPad or Android.[webmd.com]

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]
  • Some of these opinions may contain information about treatment or uses of drug products that have not been approved by the U.S. Food and Drug Administration. WebMD does not endorse any specific product, service, or treatment.[webmd.com]
  • (August 2017) Treatment [ edit ] This section is empty. You can help by adding to it . (August 2017) References [ edit ] External links [ edit ][en.wikipedia.org]
  • 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]

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]

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