Glycogen Storage diseases

Question 1

Type I (Von Gierke)

Answer 1

Enzyme: Glucose 6 phosphatase
Organ: Liver & Kidney
Clinical: Enlarged liver, failure to thrive, sever hypoglycemia, hyper urea, gouty arthritis, hyperlipidemi, mental retardation, lactic acidosis

Question 2

Type II (Pompe)

Answer 2

enzyme: (1,4) alpha glucosidase
organ: all organs
clinical: cardiorespiratory failure and death before age 2

Question 3

Type III (Cori)

Answer 3

enzyme: glycogen debranching enzyme
organ: muscle and liver
clinical: similar to von gierke bu milder (growth slowing, mental problems, hypoglyemia, hyper urea, hyperlipidemia)

Question 4

Type IV (Anderson)

Answer 4

enzyme: glycogen branching
organ: liver and spleen
clinical: progressiver cirrhosis of liver… death before age 2

Question 5

Type V (McArdle)

Answer 5

enzyme: glycogen phosphorylase
organ: muscle
clinical: limited ability to perform strenous exercise… muscle cramps

Question 6

Type VI (Hers)

Answer 6

enzyme: glycogen phosphorylase
organ: liver
clinical: similar to type I but milder ( enlarged liver, growth slowing, hypoglycemia, lactic acidosis…ect)

Question 7

Type VII (Tarui)

Answer 7

enzyme: PFK-1
organ: muscle
clinical: similar to 5…. problems with exercise, cramps

Question 8

Type VIII

Answer 8

enzyme: phosphorylase b Kinase
organ: Liver
clinical: mild liver enlargement and hypoglycemia

Question 9

Glycogen synthase deficiency

Answer 9

organ: liver
clinical: hypoglycemia, postprandial lactic acidemia fasting ketosis