Biochemistry: The Molecular Basis of Life
6th Edition
ISBN: 9780190209896
Author: Trudy McKee, James R. McKee
Publisher: Oxford University Press
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Chapter 12, Problem 2Q
Summary Introduction
To review:
The way MCAD (medium-chain acyl CoenzymeA dehydrogenase)-deficient patients can treat their symptoms considering the glycogen in the liver depletes quickly in children.
Introduction:
MCAD is an enzyme present in the mitochondria that is involved in the catalysis of the first reaction of beta-oxidation. If the MCAD synthesizing gene is mutated, it can lead to MCAD deficiencies, which has the following symptoms; vomiting, fatigue, and hyperglycemia that are accentuated if a personfasts. The substrate of the MCAD enzyme is acyl Coenzyme A. If the MCAD enzyme is not synthesized, this substrate accumulates and depresses gluconeogenesis.
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Glucose-6-phosphatase deficiency (G6PD), also known as von Gierke disease, is glycogen storage disease. It is an autosomal recessive disease occurring most frequently in males of African or Middle Eastern descent. G6PD is involved in many reactions, but we will focus on the following simplified pathway:
The conversion of glycogen to glucose is called:
A genetic disease called glucose-6-phosphate dehydrogenase deficiency is inherited in a manner similar to that of sickle-cell anemia except that it occurs most frequently in males. The defective enzyme cannot keep erythrocytes supplied with sufficient amounts of the antioxidant molecule NADPH NADPH protects cell membranes and other cellular structures from oxidation. Describe in general terms the inheritance pattern of this molecular disease. Why do you think that the antimalarial drug primaquine, which stimulates peroxide formation, results in devastating cases of hemolytic anemia in carriers of the defective gene? Does it surprise you that this genetic anomaly is commonly found in African and Mediterranean populations?
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Chapter 12 Solutions
Biochemistry: The Molecular Basis of Life
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