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Results 1 - 10 of 18 for Hyperammonemia
  1. Carbamoyl phosphate synthetase I deficiency 
    ... that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken ... synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  2. Ornithine translocase deficiency 
    ... condition. HHH syndrome Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Triple H ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  3. N-acetylglutamate synthase deficiency 
    ... not show signs and symptoms of the condition. Hyperammonemia, type III N-acetylglutamate synthetase deficiency NAGS deficiency Genetic Testing Registry: Hyperammonemia, type III Hyperammonemia due to N-acetylglutamate synthase ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics
  4. Ornithine transcarbamylase deficiency 
    ... Rare Disorders (NORD) ClinicalTrials.gov ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO PubMed Ah Mew N, Simpson KL, ...
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency - Genetics
  5. Citrullinemia 
    Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they ...
    https://medlineplus.gov/genetics/condition/citrullinemia - Genetics
  6. Arginase deficiency 
    Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  7. Carbonic anhydrase VA deficiency 
    ... VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base balance in the blood ( ... researchers suspect that some babies diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA deficiency. Carbonic ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  8. SLC25A15 gene 
    ... a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct;60( ... a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  9. Gyrate atrophy of the choroid and retina 
    ... gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  10. Lysinuric protein intolerance 
    ... causes elevated levels of ammonia in the blood (hyperammonemia). Lysine is particularly abundant in collagen molecules, which ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
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