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19 Cards in this Set
- Front
- Back
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GSD Type I
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von Gierke
G-6-phosphatase deficiency Severe fasting hypoglycemia Liver, kidney, intestine Decreased glyconeogenesis and glycogen breakdown |
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GSD Type II
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Pompe
Lysosomal acid maltase Lysosomal storage leading to inclusions inability to digest polysaccharides |
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GSD Type III
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Debranching enzyme
Cori Abnormal glycogen Growth retardation |
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GSD Type IV
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Branching enzyme
Abnormal glycogen Autoimmune leading to death |
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GSD Type V
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Muscle phosphorylase
Muscle cramps after hard exercise No rise in lactate after exercise |
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GSD Type VI
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Liver phosphorylase
Not severe, glucose can still be supplied by gluconeogenesis |
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GSD Type VII
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Muscle phosphofructokinase
Defect in glycolytic enzyme leads to buildup of glycogen Muscle cramping and exercise intolerance |
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Pemphigus
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Cadherins, desmosomes
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Glanzmanns's thrombasthenia
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Integrin
No platelets bound to integrin |
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Metastatic cancer
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MMPs
Matrix metallo proteases are required to clear the way for angiogenesis |
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Menke's disease
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Collagen
Genetic defect in copper utilization causing poor crosslinking |
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Goodpasture syndrome
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Collagen
Autoimmune against type IV in basement membrane in lungs and kidney |
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Alport syndrome
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Collagen
Type IV is defective or absent Second most inherited cause of kidney failure |
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Ehlers-Danlos syndrome
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Collagen
Impaired synthesis/assembly causes musculo/skeletal and vascular system problems |
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Osteogenesis imperfecta
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Collagen
Genetic mutation in type I collagen |
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Scurvy
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Collagen
Vitamin C deficiency preventing collagen cross linking |
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Marfan's syndrome
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Fibrillin
Defective fibrillin fails to crosslink elastin |
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Restenosis
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MMPs
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Angiogenesis
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MMPs
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