Question

A newborn infant develops its first cold,

and is fussy and cannot eat. After missing a few
feedings, the child becomes quite lethargic,
and the parents rush the child to the emergency
department. Blood analysis indicates
elevated levels of lactate and uric acid, and
significantly decreased levels of glucose. After
stabilizing the child with glucose infusions, a
glucagon challenge is given to the infant, and
blood glucose levels do not increase, but decrease
slightly. The accumulation of which metabolite
in the liver is most responsible for the
elevated uric acid seen in the circulation?
(A) Glucose
(B) Lactate
(C) Ribose 5-phosphate
(D) Thymidine
(E) Acetoacetate

Answer 1

The accumulation of ribose 5-phosphate in the liver is most responsible for the elevated uric acid seen in the circulation in this newborn infant.

Step-by-step explanation:

The elevated levels of uric acid in the newborn's circulation are most likely due to the accumulation of ribose 5-phosphate in the liver. This is caused by Von Gierke's disease, which is characterized by overactive HMP shunt pathway and deficiency of glucose-6-phosphatase. The overproduction of ribose 5-phosphate leads to overproduction of PRPP, resulting in elevated uric acid levels in the blood.