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Glycogen storage diseases Flashcards

1
Q

What are glycogen storage disease?

A

inherited disorders that affect glycogen metabolism

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2
Q

What areas in the body affected by glycogen storage disease?

A

liver and skeletal muscle

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3
Q

What do the disorders that affect the liver result in?

A

Hepatomegaly - enlarged liver

Hypoglycaemia - low blood sugar levels

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4
Q

What do the disorders that affect the muscle cause?

A

muscle cramps and weakness

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5
Q

What can glycogen storage disease also cause disturbances on?

A

Renal and CV

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6
Q

What is type 1 glyocogen disease?

A

Glucose-6-phosphatase defiency, von gierkes diseases

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7
Q

What does glucose-6-phosphatase do?

A

Catalyses the release of phosphate group allows free glucose to be released from the liver into the bloodstream

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8
Q

What does a defiency in glucose-6-phosphatase result in?

A

Large increase in intra-cellular G-6-P

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9
Q

What does type 1 defiency cause?

A

large accumulation of glycogen in the liver and kidney and inability to increase blood sugar levels in response to glucagon and adrenaline release

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10
Q

What are symptons of von gierkes disease?

A

Severe hepatomegaly and severe hypoglycaemia

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11
Q

What are the treatments for von gierkes disease?

A

treat hypoglycaemia of drug induced inhibition and continous intra-gastric feeding overnight
liver transplant

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12
Q

What is the surgical option for von gierkes disease?

A

surgical transposition of the portal vein - portal vein delivers glucose rich blood from the intestines to the liver - diverts glucose to peripheral tissues first

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13
Q

What is type 2 disease?

A

Pompes disease a-1,4 glucosidase defiency

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14
Q

What happens with type 2 disease?

A

most severe - die of cardio-resp failure before 1yr

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15
Q

What is enzyme a-1,4 glucosidase in involved in ?

A

gylcogen degradation in lysosomes - glycogen granules taken up by lysosomes and broken down

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16
Q

What does type 2 causes?

A

Accumulation of glycogen in lysosomes of all cells - disrupts lysosomal functions

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17
Q

how can type 2 disease detected by?

A

blood tests for mutations 1/85 people carry recessive trait

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18
Q

What does mutations cause?

A

destroy protein - infant onset pompes disease

mutations that leave enzyme intact adult/juve disease

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19
Q

What is treatment for type 2 disease?

A

without a-1-4 glucosidase glycogen builds up inside lysosome and ruptures damaging muscle tissue
GAA or enzyme replacement therapy

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20
Q

what is type 3 disease?

A

Coris disease - amylo1,6,glucosidase, debranching enzyme

21
Q

What happens in type 3 disease?

A

Glycogen formed has abnormal structure and buils up - short outer chain accumulates in liver and muscle

22
Q

What happens in type 3?

A

Absence of debranching enzyme - gylcogen cant be completely degraded, symptons appear in puberty

23
Q

What are symptons of type 3 coris disease?

A

muscle weakness and liver problems, similiar to type 1 - not as sever hypoglycaemia

24
Q

How do treat type 3 disease?

A

frequent feeding and high protein diet

25
Q

What is type IV - 4 andersons disease?

A

deficiency of glycogen branching enzyme, amylo-transglycosylase

26
Q

What does type IV do?

A

adds new branches in glycogen molecule during synthesis - results in reduced ability to store glucose residues as glycogen

27
Q

What is severity of type IV 4?

A

one of most sever - rarely survive past age 4 - long unbranched chains make it very insoluve

28
Q

What is main sympton of andersons disease?

A

liver dysfunction - immune response to abnormal glycogen

29
Q

What is type V - 5 mcardles disease?

A

Muscle phosphorylase defiency

30
Q

What happens in type V - 5?

A

glucose residues are removed from glycogen as G1-P by glycogen phosphorylase

31
Q

What is affected in type 5?

A

glycogen breakdown in muscle affected leads to lack of glucose for glycolysis to produce ATP

32
Q

What are symptons of type 5?

A

painful muscle cramps after exertion - muscle cant convert glycogen to glucose to lactate - muscle tissue breaksdown due to lack lactate

33
Q

What is treatment of type V -5 ?

A

disease not fatal, quite harmless as long as strenuous exercise is avoided

34
Q

What is type VI - 6 disease?

A

Liver phosphorlase defiency - Her’s disease

35
Q

What happens in VI - 6 disease?

A

similiar to type 1, lack of glycogen phosphorylase in the liver - mild symptons

36
Q

What are symptons of hers type 6 disease?

A

enlarged liver with mild hypoglycaemia - mild ketosis and retarded growth

37
Q

Why does hypoglycaemia results from and ketosis?

A

Hypoglycaemia - inability to breakdown liver glycogen to increase blood glucose levels
Ketosis - non functioning TCA cycle

38
Q

What is type VII disease? 7

A

muscle phosphofructokinase defiency taruis disease

39
Q

What happens in type 7 disease?

A

defiency of phosphofuctokinase in muscle disrupts glycolysis - leads to build up of glucose-6,fructose,6 phosphate

40
Q

What happens in type 7 disease?

A

high conc of glucose -6-phosphate increases the activity of glycogen synthase and UDP-glucose pyrophosphorylase

41
Q

What does type 7 cause?

A

Build up of glycogen in the muscle - painful muscle cramps

42
Q

What is type VIII - 8 ?

A

X-linked phosphorylase kinase defiency

43
Q

What happens in type 8 disease?

A

defective phosphorylase kinase cant add phosphate to convert glycogen to phos b to active phos a

44
Q

Why is glycogen not broken down?

A

lack of phosphorylated active form of glycogen phosphorylase - similiar symptons to type 6, this is x-linked

45
Q

What is type XI? 9 ?

A

phosphorylase kinase defiency

46
Q

What does type 9 disease cause?

A

autosomal recessive disease - from mutations in genes that encode phosphorylase kinase subunits

47
Q

What is symptons of type 9?

A

different tisses have different isoenzymes of phosphorylase kinase - depends on affected organ

48
Q

What is type 0 disease?

A

Liver glycogen synthase defiency

49
Q

What does type 0 disease cause?

A

only glycogen with too little glycogen - glycogen synthase activity is low and suffer from hypoglycaemia after meals

NE (17 decks)

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