A 3 month old boy is brought to doctor for a follow up exam due to recurrent seizures. The pediatricion observes: -Hypotonia -Psychomotor retardation -Developmental delay. Lab analysis shows hypoglycemia and elevated plasma levels of lactate, alanine, pyruvate and keto acids. Infant is referred to medical geneticist who suspects an inherited enzyme deficiency. This patient most likely has a deficiency of an enzyme that catalyzes the synthesis of what molecule? Why do you think this?

🎲 Try a Random Question  |  Total Questions in Quiz: 247  |  🧠 Study this quiz with Flashcards
This question is part of a full practice quiz:
USMLE General Principles Question Bank — practice the complete quiz, review flashcards, or try a random question.

The General Principles section of the USMLE covers these topics:
Biochemistry
Genetics
Microbiology
Pathology
Pharmacology


1. A 3 month old boy is brought to doctor for a follow up exam due to recurrent seizures. The pediatricion observes: -Hypotonia -Psychomotor retardation -Developmental delay. Lab analysis shows hypoglycemia and elevated plasma levels of lactate, alanine, pyruvate and keto acids. Infant is referred to medical geneticist who suspects an inherited enzyme deficiency. This patient most likely has a deficiency of an enzyme that catalyzes the synthesis of what molecule? Why do you think this?