Tough Stuff

Question 1

Enzyme deficiency and signs and symptoms: Von Geirke

Answer 1

Glucose 6 phosphatase def

Hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia, hyperurecemia (gout) and growth failure

Question 2

Enzyme deficiency and signs and symptoms: Pompe Dx

Answer 2

Acid alpha Glucosidase def (breaks glucose-glucose bond)

Hepatomegaly, heart failure, respiratory failure (diaphragm weakness), muscle weakness–> death

Question 3

Enzyme deficiency and signs and symptoms: Cori Dx

Answer 3

Glycogen Debranching enzyme (1,6 Glucosidase) deficient
Hepatomegaly, hypoglycemia, hyperlipidemia, mild myopathy
III looks like I +II

Question 4

Enzyme deficiency and signs and symptoms: McArdle Dx

Answer 4

Muscle glycogen phosphorylase
Exercise induced cramps
Rhabdomyolysis with renal symptoms (myoglobin, creatinine kinase and Aldolase)

Question 5

Name all 7 lysosomal storage diseases

Answer 5

Krabbe, fabry, gauchers, Tay Sachs, Neimann picks

Hunters and hurlers

Question 6

Enzyme deficiency, byproduct, and signs and symptoms: Tay Sachs

Answer 6

Beta hexosaminidase A, increase in GM2 ganglioside
CNS symptoms
Lysosomes has whirl or onion skin appearance

Question 7

Enzyme deficiency, byproduct, and signs and symptoms: Neimann Pick Dx

Answer 7

Sphingomylenase, sphingomylin
CNS symptoms and hepatosplenomegaly
Zebra bodies

Question 8

Enzyme deficiency, byproduct, and signs and symptoms: Gauchers Dx

Answer 8

Glucocerebrosidase, glucoceribroside
Hepatosplenomegaly
Erlenmyer flask lesions on bone
Crumpled tissue appearance of lysosomes

Question 9

Enzyme deficiency, byproduct, and signs and symptoms: Krabbe Dx

Answer 9

Galactoceribrosidase, galactocerebroside

Gobloid cells

Question 10

Enzyme deficiency, byproduct, and signs and symptoms: Fabry Dx

Answer 10

Alpha galactosidase, ceremide trihexoside

X-linked recessive

Question 11

Name the 4 glycogen storage diseases and their mode of inheritance

Answer 11

Von geirke, pompe, cori, mcardles

All are autosomal recessive