USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Ornithine transcarbamylase deficiency
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- most common urea cycle disorder
- X-linked recessive (vs other urea cycle enzyme deficiencies!)
- often present in the first few days of life
- ↑ orotic acid in blood and urine- ↓ BUN (blood urea nitrogen)- symptoms of hyperammonemia- no megaloblastic anemia (vs orotic aciduria)
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