USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite 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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