About a Crying baby


 

(I-09) A 10 months-old infant is brought to your office because of frequent crying episodes, lethargy and poor eating. The parents stated that they found that if they fed the child frequently, the lethargic episodes could be reduced in number. You find a mildly enlarged liver. The results of blood work indicated that the child was hypoglycemic and hypoketonemic. Hepatic biopsy reveals large droplet steatosis. You indicate an organic profile of urine to confirm your presumptive diagnosis. While you wait the results, which of the following conditions would be the most probable in this case?

 

a)     Deficit of glucose (6) phosphatase

 

b)     Deficit of Medium chain Acyl CoA dehydrogenase

 

c)      Diabetes mellitus Type I

 

d)     Hyperinsulinemia

 

e)     Deficit of hepatic Glycogen Phosphorylase

 

f)       Deficit of muscle Glycogen Synthase

 

g)     Mc Ardle Disease

 

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