A previously healthy 2-month-old female presents with jittery spells several hours after breastfeeding. Her mother reports she has not given the baby anything to eat other than breastmilk since birth. The baby has only recently been sleeping for more than 2 hours between feedings and that’s when the mother reports these symptoms started. Laboratory results are consistent with hypoglycemia (low blood glucose) but are otherwise unremarkable. Epinephrine is administered and there is no increase in blood glucose but there is an increase in blood lactate (Hint: think of what pathways would be activated by this hormone). Physical exam reveals a liver edge 4 cm below the right costal margin. Percussion of the right chest and abdomen confirms hepatomegaly (enlarged liver). Blood glucose levels increase after breastfeeding but she cannot maintain blood glucose levels within a normal range during fasting.
Based on the information above, which of the following is the most likely diagnosis of this patient? Explain why your answer is correct and why the other answers are not correct.
a) Hereditary fructose intolerance
b) Galactosemia
c) Glycogen storage disease (inability to use glycogen)
d) Glucose 6-phosphate dehydrogenase deficiency
Answer:
c) Glycogen storage disease (inability to use glycogen). General symptoms onset by 3 to 4 months after birth, and they include hypoglycemia, increased lactate levels, hepatomegaly, extreme fatigue. Similarly epinephrine administration also doesn’t cause increase in blood sugar levels, which are consistent with the reported symptoms.
Options that are not correct:
a) Hereditary fructose intolerance- increased levels of fructose in the blood, gastrointestinal bleeding, jaundice, growth retardation, vomiting etc.
b) Galactosemia- or GALT deficiency, the symptoms appear within a few days after birth, extreme intolerance to galactose and lactose, yellowing of skin, amino acids in urine etc.
d) Glucose 6-phosphate dehydrogenase deficiency- it is a X-linked recessive disorder and symptoms are exclusively observed in males, and females are mostly carrier. In the given case, the patient is a female.
A previously healthy 2-month-old female presents with jittery spells several hours after breastfeeding. Her mother reports...
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