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MMD Test 2

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