Congenital defects in glycogen metabolism can have seriousnegative effects on human health. Below are several examples takenfrom box 15.4 in the text. For each example, statehow glucose glycogen metabolism is likelyaltered from an inherited mutation to the stated enzyme (assumethese mutations cause the enzymes to losetheir normal function).
- The “Type 0†glycogen storage disease (liver) is caused byglycogen synthase (GYS). Symptoms includelow blood glucose, high ketone bodies, early death.
- The “Type Ia (Von Gierke)†glycogen storage disease (liver) iscaused by Glucose 6-phosphatase. Symptomsinclude enlarged liver and kidney failure.
- The “Type VII (Tarui)†glycogen storage disease (muscle) iscaused by PFK-1. Symptoms include muscleexercise cramps.
Please answer with explanation. Thank you!
