Medical Question of the Day- 14

A 2-month-old child is brought to the clinic by his parents with a complaint of failure to thrive. During an examination, the baby suffers a seizure. Test of stat serum chemistries indicates hyperlipidemia, severe hypoglycemia, ketosis, and lactic acidosis. Hepatomegaly is also confirmed by both physical examination and CT scan.

Which of the following conditions is the child suffering from based on these findings?

A- Gaucher disease

B- Niemann-Pick disease

C- Pompe disease

D- Von Gierke disease


Also known as glycogen storage disease type 1, Von Gierke disease, is a condition where the body is unable to break down glycogen, which is a form of glucose (sugar) that is stored in muscles and liver. Glycogen is broken down into glucose to give more energy through glycogenolysis. The condition is marked by low blood sugar, slow growth rate, weak muscles, enlarged liver, heat intolerance, etc.

The correct answer is D

The winner of the Day is osas idehenre. 

A copy of the book: “Repeated USMLE Questions Step 1” is sent to the winner

Thank you all and I wish you the best of luck next question.

14 thoughts on “Medical Question of the Day- 14”

  1. Von Gierke disease(type1)
    deficient glucose 6 phosphatase will result in hypoglycemia(glucose not produced) leading to the seizures, glycogenesis, elevated lactate and TG from the alternative pathways

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