A child with low blood glucose is unable to do glycogenolysis or gluconeogenesis. Which of the following enzyme is missing in the child?
Correct Answer: Glucose 6 Phosphatase
Description: Ans. C. Glucose 6 Phosphatase(Ref: Harper 29/e page 179, 181. Table 19.2, 189, Harper 31/e page 167)The answer should be an enzyme common to Glycogenolysis and Gluconeogenesis.Glycogen Storage DisordersInborn errors of metabolism of Glycogen associated with accumulation or altered function of Glycogen in various organs concerned with Glycogen metabolism.Liver Glycogen Storage DisorderTypeNameEnzyme efficiencyCharacteristicsIaVon Gierke's diseaseGlucose 6-phosphataseQGlycogen accumulation in liver and renal tubule cells (Kidney Enlarged, hypoglycemia; elevated blood lactate, cholesterol, triglyceride, and uric acid levelsIb--Endoplasmic reticulum glucose6-phosphate transporter/translocaseSame as type Ia, with additional findings of neutropenia and impaired neutrophil function.Recurrent Bacterial Infection, Inflammatory Bowel Disease
Category:
Biochemistry
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