GSDs and Hormones

Question 1

Type I GSD

Answer 1

Von Gierke’s Disease

Question 2

affected enzyme in Type I

Answer 2

Glucose 6-phosphatase

Question 3

Affected tissue in GSD I

Answer 3

liver

kidney

Question 4

Clinical features of GSD 1

Answer 4

large quanitites of glycogen are formed and stored in hepatocytes, renal and intestinal mucosa cells

liver and kidneys become enlarged

abnormalities of lipids may lead to xanthoma formation

uric acid is often elevated and may cause clinical gout

galactose, fructose and glycerol are metabolized to lactate

elevated blood lactate levels cause metabolic acidoses

Question 5

treatment of GSD I

Answer 5

blood loss- oral iron

raised uric acid levels - allopurinol

renal function - hyperuricaemia and pyelonephritis

blood glucose - diazoxide

liver transplantation
hepatocellular carcinoma —–> primary disease

Question 6

GSD Type II

Answer 6

Pompe’s disease

Question 7

cause of GSD II

Answer 7

deficiency of lysosomal enzyme alpha-1,4 glucosidase (acid maltase)

leads to accumulation of glycogen in many tissues

Question 8

Clinical feature of GSD II

Answer 8

clinical spectrum is broad

infantile - accumulation of glycogen in cardiac muscle leads to cardiac failure

accumulation may also occur in the liver- results in hepatomegaly and elevation of hepatic enzymes

glycogen accumulation in muscle and peripheral nerves causes hypotonia and weakness

glycogen deposition in blood vessels may result in intracranial aneurysms

Question 9

Treatment of GSD II

Answer 9

enzyme replacement therapy (alglucosidase alfa)

Diet therapy - high protein, low carbohydrate

Physiotherapy and occupational therapy

Question 10

GSD Type III

Answer 10

Cori Disease

Question 11

Affected enzyme GSD III

Answer 11

Glycogen debranching enzyme

Deposition of abnormal glycogen structure

Question 12

Affected tissues GSD III

Answer 12

Liver and muscle

Question 13

Clinical features Type III

Answer 13

about 15% - liver

hypoglycemia
poor growth
hepatomegaly
moderate progressive myopathy

symptoms can regress with age

liver cirrhosis and hepatocellular carcinoma

Question 14

Treatment of Type III

Answer 14

as with type I

protein supplements for muscle disorder

Question 15

GSD Type IV

Answer 15

Andersen’s disease

Question 16

other name of andersen’s disease

Answer 16

amylopectinosis

Question 17

Affected enzyme GSD IV

Answer 17

glycogen branching enzyme

abnormally structured glycogen forms

Question 18

Affected tissues GSD IV

Answer 18

many

liver

peripheral nerves

Question 19

Clinical features GSD IV

Answer 19

hepatomegaly
failure to thrive
cirrhoseis
splenomegaly
jaundice
hypotonia
waddling gait
lumbar lordosis

Question 20

Treatment GSD IV

Answer 20

Liver transplant

Question 21

prognosis GSD IV

Answer 21

death by age 4 because of cirrhosis and portal hypertension

Question 22

Type V GSD

Answer 22

McArdle’s disease

Question 23

Cause GSD V

Answer 23

myophosphorylase deficiency

Question 24

Affected tissue GSD V

Answer 24

muscle

Question 25

Clinical features GSD V

Answer 25

clinical findings may be absent

muscle strength may be normal

later adult life - persistent proximal weakness; muscle wasitn

fatal infantile form- hypotonia and reduced reflexes

ischaemic forearm test: traditional test