36 常見的glycogen storage disease是因為病人缺乏glucose-6-phosphatase所造成，下列敘述何者正確？

glycogen synthesis增加

glucose-6-phosphate無法轉化成glucose-1-phosphate

病人血中glucose濃度可能偏低

glycolysis異常

ans C

this case is refering to von Gierke's disease

Glycogen storage disease type I (GSD I) or von Gierke's disease, is the most common of the glycogen storage disease

This deficiency impairs the ability of the liver to produce free glucosefrom glycogen and from gluconeogenesis.

Since these are the two principal metabolicmechanisms by which the liver supplies glucose to the rest of the body during periods offasting, it causes severe hypoglycemia

Glucose 6-phosphatase (Glc-6-Pase) is an enzyme that hydrolyzes glucose-6-phosphateresulting in the creation of a phosphate group and free glucose.

Number	Enzyme deficiency	Eponym	Incidence	Hypo- glycemia?	Hepato- megaly?	Hyperlip- idemia?	Muscle symptoms	Development/ prognosis	Other symptoms
GSD type I	glucose-6-phosphatase	von Gierke's disease	1 in 50,000[4]- 100,000[11]births	Yes	Yes	Yes	None	Growth failure	Lactic acidosis,hyperuricemia
GSD type II	acid maltase	Pompe's disease	1 in 60,000- 140,000 births[5]	No	Yes	No	Muscle weakness	*Death by age ~2 years (infantile variant)	heart failure
GSD type III	glycogen debrancher	Cori's diseaseor Forbes' disease	1 in 100,000 births	Yes	Yes	Yes	Myopathy
GSD type IV	glycogen branching enzyme	Andersen disease		No	Yes, also cirrhosis	No	None	Failure to thrive, death at age ~5 years
GSD type V	muscle glycogen phosphorylase	McArdle disease	1 in 100,000[12]	No	No	No	Exercise-induced cramps,Rhabdomyolysis		Renal failurebymyoglobinuria
GSD type VI	liver glycogen phosphorylase	Hers' disease	1 in 65,000- 85,000 births[13]	Yes	Yes	No	None
GSD type VII	muscle phosphofructokinase	Tarui's disease		No	No	No	Exercise-induced muscle cramps and weakness	growth retardation	Haemolytic anaemia
GSD type IX	phosphorylase kinase, PHKA2	-		No	No	Yes	None	Delayed motor development,Growth retardation
GSD type XI	glucose transporter,GLUT2	Fanconi-Bickel syndrome		Yes	Yes	No	None
GSD type XII	Aldolase A	Red cell aldolase deficiency		?	?	?	Exercise intolerance,cramps
GSD type XIII	β-enolase	-		?	?	?	Exercise intolerance,cramps	Increasing intensity ofmyalgias over decades[14]	Serum CK: Episodic elevations; Reduced with rest[14]
GSD type 0	glycogen synthase	-		Yes	No	No	Occasionalmuscle cramping