MMD Test 2 Word Scramble
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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 |
Created by:
jjohrden16
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