Review Note
Last Update: 05/26/2024 06:15 PM
Current Deck: Geneeskunde::2e bachelor::metabolisme en endocrinologie::koolhydraat metabolisme yippie!
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Question
A 2-year-old child is undergoing testing to determine the cause of her small stature,
hepatomegaly, fasting hypoglycemia, and hypotonia. A liver biopsy reveals inflammation and a
high percentage of glycogen outer chains with four glucosyl residues. The enzyme of glycogen
metabolism most likely to be deficient in this patient is:
Title
QType (0=kprim,1=mc,2=sc)
2
Q_1
glycogen phosphorylase.
Q_2
glycogen phosphorylase kinase.
Q_3
branching enzyme.
Q_4
debranching enzyme.
Q_5
glycogen synthase.
Answers
0 0 0 1 0
Sources
Extra 1
Glycogen of an abnormal structure is seen in two glycogen storage
diseases (GSDs), types III and IV. Type III GSD (Cori disease) affects
glycogen degradation (glycogenolysis) and is caused by a deficiency in
bifunctional debranching enzyme. The first function (4→4
transferase) removes the outer three of the four glucosyl residues left
at a branch point by glycogen phosphorylase. The second function
(1→6 glucosidase) removes the terminal residue as free glucose. In
contrast, type IV GSD (Andersen disease) is a deficiency of branching
enzyme of glycogen synthesis (glycogenesis). It is characterized by
liver cirrhosis.
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