KROK 1 Stomatology 2016 – Question 178 · KROK (Dentistry)
A 2-year-old child presents with mental development retardation, intolerance of proteins, severe hyperammonemia against the background of low blood urea content. This condition is caused by the congenital deficiency of the following mitochondrial enzyme:
- A. Monoamine oxidase
- B. Malate dehydrogenase
- C. Carbamoyl phosphate synthetase
- D. Citrate synthase
- E. Succinate dehydrogenase
Hint
Low urea together with high ammonia points to a block at the very first, mitochondrial step of the urea cycle.
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