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Biochemistry

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Carbohydrates

Question
23 out of 40
 

A patient present with Hypoglycemia & Hepatomegaly. Hypoglycemia does not respond to epinephrine. Most likely diagnosis?(AIPG 2010)



A von Gierke’s

B Gaucher’s disease

C Anderson’s disease

D Pompe’s disease

Ans. A von Gierke’s

a. Once the diagnosis is suspected, the multiplicity of clinical and laboratory features usually makes a strong circumstantial case.

b. If hepatomegaly, fasting hypoglycemia, and poor growth are accompanied by lactic acidosis, hyperuricemia, hypertriglyceridemia, and enlarged kidneys by ultrasound, GSD I is the most likely diagnosis.

c. The differential diagnosis list includes glycogenoses types III and VI, fructose 1,6-bisphosphatase deficiency, and a few other conditions, but none are likely to produce all of the features of GSD I.

d. The next step is usually a carefully monitored fast. Hypoglycemia often occurs within six hours.

e. A critical blood specimen obtained at the time of hypoglycemia typically reveals a mild metabolic acidosis, high free fatty acids and -hydroxybutyrate, very low insulin levels, and high levels of glucagon, cortisol, and growth hormone.

f. Administration of intramuscular or intravenous glucagon (0.25 to 1 mg, depending on age) or epinephrine produces no or little rise of blood sugar.

Carbohydrates Flashcard List

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