Question

Answer the question using only your knowledge of glycogen metabolism enzymes. A baby is brought to the doctor by his parents after experiencing irritability and seizures when he sleeps through the night. Tests showed fasting hypoglycemia (low blood glucose concentration), increased serum lipid levels, elevated blood lactate after glucose administration, and elevated uric acid. The child also had an enlarged abdomen. Glycogen levels were increased in hepatocytes. (Assume the glycogen is of normal structure.) The patient has a glycogen storage disease. Which enzyme of glycogen metabolism is affected? O branching enzyme O phosphofructokinase O a-1,4-glucosidase (a hydrolytic enzyme) O glucose 6-phosphatase

A baby is brought to the doctor by his parents after experiencing irritability and seizures when he sleeps through the night. Tests showed fasting hypoglycemia (low blood glucose concentration), increased serum lipid levels, elevated blood lactate after glucose administration, and elevated uric acid. The child also had an enlarged abdomen. Glycogen levels were increased in hepatocytes. (Assume the glycogen is of normal structure.)

The patient has a glycogen storage disease. Which enzyme of glycogen metabolism is affected?

Answer 1

Glucose 6- phosphatase malfunctioning results in glycogen storage disease Type 1 .

GSDI is caused by a dysfunction in the Glucose6- phosphatase , a key step in the regulation of glycemia. The deficit is associated with the catalytic subunit G6P-alpha which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter.

Disease shows automsomal recessive pattern of inheritance.

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