OTC deficiency is an x-linked recessive metabolic disorder of the urea cycle characterized by hyperammonemia. The disease is manageable by dietary arginine and low protein diet.
OTC deficiency is the most common urea cycle disorder. Its prevalence is about 1/40,000.[Error: Macro 'ref' doesn't exist]
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22. |
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39. |
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40. |
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41. |
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45. |
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None (2001) Ornithine carbamoyltransferase deficiency. |
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53. |
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54. |
None (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene. |
55. |
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56. |
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59. |
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60. |
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61. |
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OMIM.ORG article Omim 311250 |
88. |
Orphanet article Orphanet ID 664 |
89. |
Wikipedia article Wikipedia EN (Ornithine_transcarbamylase_deficiency) |