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Exam questionKROK 1Medicine ยท 2013

The genetic defect of pyruvate carboxylase deficiency is the cause of delayed physical and mental development and early death in children. This defect is characterized by lacticemia, lactaci-duria, disorder of a number of metabolic pathways. In particular, the following process is inhibited:

Answer options

  1. Pentose phosphate pathway and glycolysis
  2. Glycolysis and glycogenolysis
  3. Citric acid cycle and gluconeogenesis
  4. Glycogenesis and glycogenolysis
  5. Lipolysis and lipogenesis
Correct answer

Citric acid cycle and gluconeogenesis

Explanation

The genetic defect of pyruvate carboxylase deficiency is the cause of delayed physical and mental development and early death in children. This defect is characterized by lacticemia, lactaciduria, disorder of a number of metabolic pathways. In particular, the following process is inhibited:Pyruvate is first converted by pyruvate carboxylase to Oxaloacetate which is an intermediate in the Citric Acid Cycle. Pyruvate carboxylase is involved in the synthesis of phosphoenolpyruvate during Gluconeogenesis.

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