Diseases of metabolism

Question 1

Glycogen storage disease:

Glucose 6 phosphates is defective so that liver cannot release glucose into the blood

Answer 1

Von Gierke disease

Question 2

name the disease that effects lysosomal glycogenolysis by a deficiency in acid maltase and is treatable by a synthetic enzyme infusion.
glycogen accumulates in lysosomes and disrupts function of muscle and liver
children die of heart failure

Answer 2

Pompe disease

Question 3

name the glycogen metabolism disease that has a deficiency in glycogen synthase where patients cannot synthesize glycogen and therefore rely on glucose from diet, are ofter hypoglycemic and have muscle cramps

Answer 3

GSD-0

Question 4

name the glycogen metabolism disease that is caused by a deficiency in glucose transferase, causing patients to have fewer, longer branches in glycogen, causes enlargement of liver and spleen and liver scarring. very serious, usually death by age 5

Answer 4

Anderson Disease

Question 5

name the disease that is caused by a deficiency in muscle glycogen phosphorylase.

• myoglobinuria
• weakness and muscle cramps

Answer 5

McArdle Disease

Question 6

name the disease that is caused by deficiency in liver glycogen phosphorylase that causes hypoglycemia and hepatomegaly

Answer 6

Hers Disease

Question 7

name the disease that is caused by a deficiency in A-Smase which breaks down sphingomyelin in lysosomes.
sphingomyelin accumulates in cells of liver, spleen, CNS
Leads to enlargement of liver, and spleen and neurological damage

Answer 7

Niemann - Pick Disease

Question 8

name the condition of elevated levels of cholesterol in membrane of RBCs which decreasing fluidity and flexibility causing them to break with traveling thru spleen capillaries

Answer 8

Spur Cell Anemia

Question 9

name the condition that is marked by thick mucus secretions in the lungs that commonly get infected. This is all due to deficiency in a Cl- channels in lung epithelial cells

Answer 9

Cystic Fibrosis

Question 10

Name the condition that has a defect in the transport of cystine resulting in cystine crystals in the kidney

Answer 10

Cystinuria

Question 11

name the disease that is caused by a defect in transporter for non-polar amino acids, primarily in the kidney and intestines.. this leads to a deficiency in tryptophan which makes serotonin. symptoms include cerebellar ataxia (lack of muscle movement)

Answer 11

Hartnup Disease

Question 12

name the disease in the purine salvage pathway that has the defective enzyme HGPRT which causes an overproduction of uric acid
patients could have gout, urate kidney stones, poor muscle control and mental retardation and mutilation

Answer 12

Lesch Nahyn Syndrome

Question 13

name the enzyme that is involved in pyrimidine synthesis that causes orotic acuduria by a build up of orotate

Answer 13

ump synthase

Question 14

name the condition involved in purine degradation that is caused by deficiency in the enzyme adenosine deaminase (ADA)

Answer 14

SCID

Question 15

name the condition involved in purine degradation that is caused by excess activity of the enzyme adenosine deaminase (ADA)

Answer 15

hemolytic anemia

Question 16

name the condition of the Citric Acid Cycle that causes severe neurological problems and fatal for young children. Hint Fumarate can easily be detected in the uric

Answer 16

Fumarase deficiency