HHH syndrome is due to defect in:-
Correct Answer: Ornithine permease
Description: HHH syndrome is due to defect in Ornithine permease of mitochondrial membrane. Hyperornithinemia: As ornithine can't enter mitochondria, it accumulates in blood. Hyperammonemia: As ornithine is not available, urea cycle can't operate i.e. NH3 can't be detoxified. Homocitrullinuria: As ornithine is not available, ornithine homologue lysine reacts with Carbamoyl phosphate to produce homocitrulline. (Difference between lysine and ornithine is just one CH2 group)
Category:
Biochemistry
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