Inborn Errors of Metabolism · NEET PG Preparation Biochemistry
A 6-month-old infant is brought to the pediatric clinic with a history of recurrent vomiting, lethargy, and seizures after the introduction of fruit…
Practice question from Inborn Errors of Metabolism (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
medium · MCQ · Q-44730B
A 6-month-old infant is brought to the pediatric clinic with a history of recurrent vomiting, lethargy, and seizures after the introduction of fruit juices into the diet. Laboratory evaluation reveals hypoglycemia and hyperuricemia without hepatomegaly. Which of the following enzyme deficiencies is responsible for this condition?
- A.Glucose-6-phosphatase
- B.Aldolase BCorrect answer
- C.Galactose-1-phosphate uridyltransferase
- D.Myophosphorylase
Solution
Hereditary fructose intolerance is caused by a deficiency of aldolase B, leading to an accumulation of fructose-1-phosphate. This traps intracellular phosphate, depletes hepatic ATP, and inhibits both glycogenolysis and gluconeogenesis (causing hypoglycemia) as well as purine degradation (causing hyperuricemia).
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