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MMD Test 2
| Question | Answer |
|---|---|
| Von Gierke's disease symptoms | Severe hypoglycemia, increased glycogen stores, lactic acidemia, large liver and kidney, dwarfism |
| Von Gierke's deficiency | glucose-6-phosphatase |
| Von Gierke's organ involved | Liver |
| Von Gierke | Type I |
| Pompe | Type II |
| Pompe's deficiency | Lysosomal alpha 1-4 glucosidase |
| Pompe's organ involved | All organs |
| Pompe's symptoms | Cardiomegaly, hepatomegaly |
| Forbes/Cori | Type III |
| Cori's deficiency | debranching enzyme |
| Cori's organ involved | Liver, muscle, heart |
| Cori symptoms | Hepatomegaly, normal ECG, lipids and glucose, normal kidney, muscle weakness, hepatic fibrosis but not cirrhosis; mild gypoglycemia |
| Andersen | Type IV |
| Andersen deficiency | Branching enxyme |
| Andersen organ involbed | Generalized |
| Andersen symptoms | Hepatosplenomegaly, ascites, cirrhosis, liver failure, death within 2-4 years |
| McArdle | Type V |
| McArdle deficiency | muscle glycogen phosphorylase |
| McArdle organ involved | skeletal muscle |
| McArdle symptoms | weakness, cramps on exercise with no blood lactate rise, can tolerate moderate exercise, myoglobin excreted in urea; normal liver phosphorylase |
| Hers | Type VI |
| Hers deficiency | liver glycogen phosphorylase |
| Hers organ affected | liver |
| Hers symptoms | hepatomegaly, normal spleen and lipids, no acidosis; mild form of glycogen storage; hypoglycemia |
| Early onset Pompe symptoms | cardiac/resp infection/failure; floppiness, inability to gain weight; death within 1 yr |
| Late onset Pompe symptoms | skeletal and joint muscles, difficulty breathing |
| Infantile Pompe | hypotonia, cardiomegaly (abnormal ECG), respiratory difficulties |
| Early childhood Pompe | progress much more slowly, skeletal muscle weakness, death due to resp failure |
| Adult form of Pompe | no organomegaly, weak muscles, disease slowly progresses |
| Cori's disease similar to | Type I |
| Cori's disease similar to | Von Gierke's |
| Cori's disease | shows presence of creatine kinase (usually in muscles) |
| Andersen's disease | shows increase in transaminase activity in blood (shows liver damage) |
| Childhood/Adolescence McArdle's | increase in fatigability |
| 20-40 yrs McArdle's | severe muscle cramps and pain |
| >40 years McArdle's | muscle wasting and fatigue |
| Her's Disease similar to | mild Type I |
| Her's Disease similar to | Von Gierke's |
| Lactase | breaks down lactose into galactose and glucose |