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83 results
  1. N-acetylglutamate synthase deficiency 
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a process in the body called the urea cycle. The urea cycle is a sequence of ...
  2. NAGS gene 
    https://medlineplus.gov/genetics/gene/nags
    ... from being turned on, which prevents the urea cycle from starting. As a ... and symptoms of N-acetylglutamate synthase deficiency. More About This ...
  3. SLC25A13 gene 
    https://medlineplus.gov/genetics/gene/slc25a13
    ... form of ammonia) and other byproducts of the urea cycle (such as citrulline) to ... called neonatal intrahepatic cholestasis caused by citrin deficiency ( ...
  4. Gyrate atrophy of the choroid and retina 
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina
    ... molecule called ornithine. Ornithine is involved in the urea cycle, which processes excess nitrogen (in the form of ... body. In addition to its role in the urea cycle, ornithine participates in several reactions that help ensure ...
  5. Lysinuric protein intolerance 
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance
    ... are involved in a cellular process called the urea cycle, which processes the excess nitrogen (in the form ... The lack of arginine and ornithine in the urea cycle causes elevated levels of ammonia in the blood ( ...
  6. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... February 17, 2005; Last Update: January 2, 2020. Urea Cycle Disorders Overview Nicholas Ah Mew, Kara L Simpson, Andrea ...
  7. Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... to methylene tetrahydrofolate reductase [MTHFR] deficiency), cobalamin C disease , urea cycle defects , biotinidase deficiency , phenylketonuria , glycine encephalopathy, cerebral folate ...
  8. 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 ...
  9. Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1504
    ... inborn errors of metabolism, such as glycogen storage disorders and urea cycle defects. Research continues to identify the best ways ...
  10. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... pyruvate dehydrogenase deficiency, respiratory chain disorders, tricarboxylic acid cycle disorders, and gluconeogenic defects. Table 4. Disorders in the Differential Diagnosis of Pyruvate Carboxylase Deficiency View in own window ...
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