Section: USMLE

11) A 2-month-old child is evaluated for failure to thrive. During the examination, the child has a seizure. Stat serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly. Which of the following diseases best accounts for this presentation?

1. Gaucher disease
2. McArdle disease
3. Niemann-Pick disease
4. Pompe disease
5. Von Gierke disease

Von Gierke disease is a glycogen storage disease caused by a deficiency of glucose-6-phosphatase. It typically presents with neonatal hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Failure to thrive is common in early life; convulsions may occur because of profound hypoglycemia. The glycogen accumulation in von Gierke disease occurs primarily in the liver and kidneys, accounting for the enlargement of these organs. Gout may develop later because of the derangement of glucose metabolism.

Even if you do not remember all the details of the presentation of these genetic diseases, you should be able to narrow the choices:

Gaucher disease and Niemann-Pick disease are lipid storage diseases and would not be expected to produce hypoglycemia.

The other diseases are glycogen storage diseases, but both McArdle and Pompe diseases affect muscle rather than liver and would not be expected to produce profound hypoglycemia, since the liver is the major source for blood glucose.