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Title
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Ornithine transcarbamylase deficiency
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ImagePath
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System
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urea cycle
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Overview
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Most common urea‑cycle disorder causing hyperammonemia with orotic aciduria
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Pathophysiology
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X‑linked recessive deficiency of mitochondrial OTC blocks conversion of carbamoyl phosphate + ornithine → citrulline; carbamoyl phosphate → orotic acid in pyrimidine pathway
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Presentation
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Neonatal catastrophic hyperammonemia or later episodic vomiting & confusion; no megaloblastic anemia
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Diagnosis
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↑Orotic acid in urine/plasma, ↑NH3, ↓citrulline, normal CBC
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Management
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Protein restriction, nitrogen‑scavenger drugs, arginine supplementation, liver transplant definitive
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Epidemiology
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1:40 000 male births; female heterozygotes symptomatic during catabolic stress
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Tags
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