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228 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Ornithine Transcarbamylase Deficiency Synonyms: Ornithine Carbamoyltransferase Deficiency, OTC Deficiency ...
  2. ... disorders. Learn more about the gene associated with Ornithine translocase deficiency SLC25A15 Inheritance This condition is inherited ...
  3. ... liver. Learn more about the gene associated with Ornithine transcarbamylase deficiency OTC Inheritance Ornithine transcarbamylase deficiency is ...
  4. ... quality of life 5.2.5.1.11. Ornithine alpha-ketoglutarate versus placebo One study (n=160) showed there is potentially no clinical difference between ornithine alpha-ketoglutarate and placebo for rate of complete ...
  5. ... called citrulline. Health Conditions Related to Genetic Changes Ornithine transcarbamylase deficiency More than 500 OTC gene mutations have been identified in people with ornithine transcarbamylase deficiency, an inherited disorder that causes ammonia ...
  6. ... quality of life 12.1.5.1.4. Ornithine alpha-ketoglutarate versus placebo One study (n=160) showed there is potentially no clinical difference between ornithine alpha-ketoglutarate and placebo for rate of complete ...
  7. ... urea cycle. Health Conditions Related to Genetic Changes Ornithine translocase deficiency At least 35 mutations in the ... gene have been identified in individuals affected by ornithine translocase deficiency, which is characterized by abnormally high ...
  8. ... defects, it may be normal. Plasma concentration of ornithine is elevated in ORNT1 deficiency, in which urine homocitrulline is also elevated. Ornithine is not elevated in OTC deficiency. Note: Plasma ...
  9. ... µmol/L). Argininosuccinic acid is absent. Arginine and ornithine concentrations are in the low-to-normal range ( ... to be due to a secondary impairment of ornithine transcarbamylase due to poor bioavailability of ornithine. However, ...
  10. ... Eflornithine is in a class of medications called ornithine decarboxylase (ODC) inhibitors. It works by blocking the ...
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