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17 Cards in this Set
- Front
- Back
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glycogen storage diseases
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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 |
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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
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in G6P deficiency why would decreased Pi lead to urate formation
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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 |
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Von Gierke
Deficiency Type |
Deficiency - G6P
Type - Ia |
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Pompe
Deficiency Type |
Deficiency - lysosomal acid glucosidase
Type - II |
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Cori
Deficiency Type |
Deficiency - debranching enzyme, both actions
Type - III IIIa in liver and muscle IIIb in liver only |
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Andersons
Deficiency Type |
Deficiency - branching enzyme liver
Type - IV |
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McArdle
Deficiency Type |
Deficiency - muscle phosphorylase
Type - V |
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Hers
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Deficiency - liver phosphorylase
Type - VI |
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Tauri
Deficiency Type |
Deficiency - muscle PFK
Type - VII |
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IX type
Deficiency |
Deficiency - phosphorylase kinase
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death in infancy from cardiac failure, muscle weakness, cardiomegaly
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POMPE
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Exercise intolerance, blood lactate doesnt rise after anaerobic exercise
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McArdle - V, muscle phosphorylase
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Accumulated glycogen with abnormal structure, progressive hepatomegaly, death in early childhood from liver cirrhosis
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Andersons branching enzy IV
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sever exercise intolerance and muscle cramps, RBC show some percentage of normal activity
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Tarui VII muscle PFK
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mild fasting hypoglycemia, hepatomegaly
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Hers disease VI liver phosphorylase
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mild hepatomegaly, fasting hypoglycemia, lactic acidemia, hyperuricemia, accumulated glycogen has abnormal strucuture, liver fibrosis or cirrhosis, muscle weakness if muscle involved
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Cori, debranching enzyme III
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