Biochem Muscle Weakness Glycogen Storage diseases
Terms
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- glycogen storage diseases
-
usually have a decreased ability to break it down, than an increased ability to synthesize it
are usually AR
two broad groups, those effecting liver and those effecting muscle -
For someone with type Ia glycogen storage disease (G-6-P Phosphatase deficiency)
why do you see glycogen accumulation in the liver (biochemically specific answer) - you get a build up of G6P which cant be converted to glucose. G6P is an allosteric acitvator of glycogen synthase
- in G6P deficiency why would decreased Pi lead to urate formation
-
Less Pi (which is trapped as G6P + intermediates) means have more AMP relative to ATP.
Pi is normally the brake on AMP deaminase(forms IMP). which means get higher urate formation -
Von Gierke
Deficiency
Type -
Deficiency - G6P
Type - Ia -
Pompe
Deficiency
Type -
Deficiency - lysosomal acid glucosidase
Type - II -
Cori
Deficiency
Type -
Deficiency - debranching enzyme, both actions
Type - III
IIIa in liver and muscle
IIIb in liver only -
Andersons
Deficiency
Type -
Deficiency - branching enzyme liver
Type - IV -
McArdle
Deficiency
Type -
Deficiency - muscle phosphorylase
Type - V - Hers
-
Deficiency - liver phosphorylase
Type - VI -
Tauri
Deficiency
Type -
Deficiency - muscle PFK
Type - VII -
IX type
Deficiency - Deficiency - phosphorylase kinase
- death in infancy from cardiac failure, muscle weakness, cardiomegaly
- POMPE
- Exercise intolerance, blood lactate doesnt rise after anaerobic exercise
- McArdle - V, muscle phosphorylase
- Accumulated glycogen with abnormal structure, progressive hepatomegaly, death in early childhood from liver cirrhosis
- Andersons branching enzy IV
- sever exercise intolerance and muscle cramps, RBC show some percentage of normal activity
- Tarui VII muscle PFK
- mild fasting hypoglycemia, hepatomegaly
- Hers disease VI liver phosphorylase
- mild hepatomegaly, fasting hypoglycemia, lactic acidemia, hyperuricemia, accumulated glycogen has abnormal strucuture, liver fibrosis or cirrhosis, muscle weakness if muscle involved
- Cori, debranching enzyme III