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inborn urea cycle disorder
Used for:
N acetyl glutamate synthetase deficiency
Broader Terms:
inborn aminoacid metabolism disorder
Narrower Terms:
argininemia
Narrower Terms:
arginosuccinate lyase deficiency
Narrower Terms:
arginosuccinate synthetase deficiency
Narrower Terms:
carbamoyl phosphate synthetase deficiency
Narrower Terms:
ornithine carbamoyl phosphate deficiency
Scope Note:
inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.
Term Number:
1849-9321
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