Question
A 4 year old child easy fatiguability. The mother also complained that the child was more hungry between meals, and the child recovers after food. Liver examination revealed no glycogen
| A. |
Branching enzyme
|
| B. |
Debranching enzyme
|
| C. |
Glucose 6 phosphatase
|
| D. |
Glycogen synthase
|
Show Answer
|
Correct Answer � D
Explanation
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|
Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. Disorders of carbohydrate metabolism that result in abnormal storage of glycogen.
The absence or malfunction of liver glycogen synthase due to mutations in the GYS2 gene will prevent glycogen from being synthesized in the liver & this is the cause of GSD.
Common presenting symptoms include growth retardation/poor weight gain in children, exercise intolerance, hypoglycemia, hepatomegaly, low muscle tone, acidosis, and hyperlipidemia
