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Results 1 - 10 of 22 for hyperammonaemia
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  1. Ornithine translocase deficiency 
    ... and symptoms of the condition. HHH syndrome Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Hyperornithinemia-hyperammonemia- ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  2. 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
  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. Ammonia Levels: MedlinePlus Medical Test 
    ... The medical term for high ammonia levels is hyperammonemia. Other names: NH3 test, blood ammonia test, serum ... books/NBK1217/#!po=42.5926 Ali R, Nagalli S. Hyperammonemia. [Updated 2022 Aug 8; cited 2023 Apr 19]. ...
    https://medlineplus.gov/lab-tests/ammonia-levels - Medical Tests
  9. SLC25A15 gene 
    ... a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct;60( ... R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  10. 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
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