Repeated USMLE Questions Step 1- 5832
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? #usmle #medicine
A- Gaucher disease
B- Niemann-Pick disease
C- Pompe disease
D- Von Gierke disease
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