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Results 11 - 18 of 18 for Ammonia
  1. Carbonic anhydrase VA deficiency 
    ... people with carbonic anhydrase VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base ... anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism. Proc Natl Acad Sci ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  2. Pyruvate carboxylase deficiency 
    ... infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They ... carboxylase allows compounds such as lactic acid and ammonia to build up and damage organs and tissues. ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  3. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... about half of individuals have an accumulation of ammonia in the blood. Buildup of these substances can ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  4. Beta-ureidopropionase deficiency 
    ... down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  5. Mitochondrial complex V deficiency 
    ... vomiting, weakness, and rapid breathing. High levels of ammonia in the blood (hyperammonemia) can also occur in ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  6. Dihydrolipoamide dehydrogenase deficiency 
    ... cardiomyopathy). Other features of this condition include excess ammonia in the blood (hyperammonemia), a buildup of molecules ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  7. Carnitine-acylcarnitine translocase deficiency 
    ... People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), ...
    https://medlineplus.gov/...tine-acylcarnitine-translocase-deficiency - Genetics
  8. Asparagine synthetase deficiency 
    ... of proteins, asparagine helps to break down toxic ammonia within cells, is important for protein modification, and ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
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