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  1. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Druze ... 
    https://www.ncbi.nlm.nih.gov/books/NBK549466
    ... al [2012] CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR c.3265C>T p.Arg1089Cys ~100% ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Finnish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535151
    ... 14757854 ] Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr. 2008;97:1412–9. [ ...
  3. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... August 15, 2000; Last Update: June 5, 2025. Urea Cycle Disorders Overview Kara L Simpson, Erin L MacLeod, Aadil ...
  4. Ammonia blood test 
    https://medlineplus.gov/ency/article/003506.htm
    ... bleeding , usually in the upper GI tract Genetic diseases of the urea cycle High body temperature (hyperthermia) Kidney disease Liver failure Low blood potassium level (in people ...
  5. Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... methylenetetrahydrofolate reductase (MTHFR) activity Cobalamin C disease (See Disorders of Intracellular Cobalamin Metabolism .) Urea cycle defects (e.g., arginase deficiency and hyperornithinemia-hyperammonemia- ...
  6. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... Figure 1 ), and for citrulline utilization in the urea cycle, with consequent amelioration of hyperammonemia. Aspartate is also important in purine synthesis. Mechanism of disease causation. Loss of PC protein function may occur ...
  7. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... associated with ornithine transcarbamylase deficiency (OTC) leading to urea ... chronic granulomatous disease (CGD) mainly involves disorders with recurrent or unusual ...
  8. Fumarate Hydratase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1506
    ... isoform of FH metabolizes fumarate produced in the urea cycle, in the purine ... of disease causation. Loss of function. Based on genotypes observed ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the enzyme arginase. This enzyme participates in the urea cycle, a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, which is generated when proteins ...
  10. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... on MS/MS. Mitochondrial respiratory chain and Krebs cycle disorders. Mitochondrial respiratory chain disorders are a heterogeneous group ... distinctive elevation of fumaric acid or other Krebs cycle intermediates, reflecting the site of the enzyme deficiency. See ... Following Initial Diagnosis To establish ...
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