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单词 Carbamoyl phosphate synthetase deficiency
释义

Carbamoyl phosphate synthetase deficiency

英语百科

Ornithine translocase deficiency

Ornithine translocase deficiency has an autosomal recessive pattern of inheritance.

Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.

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