Diseases/Poisons

Question 1

Tetrodotoxin poisoning

Answer 1

Tetrodotoxin, or TTX, is a potent neurotoxin that blocks voltage-gated Na+ channels thus the action potential firing. Its name derives from Tetraodontiformes, which include the pufferfish, porcupinefish, ocean sunfish or mola, and triggerfish. TTX is deadly, up to 1200 times more poisonous than cyanide. There is enough toxin in one pufferfish to kill 30 adult humans, and there is no antidote.

Question 2

Analgesic produced by cone snails

Answer 2

Conotoxins

Question 3

Tetanus

Answer 3

Medical condition charcterized by a prolonged contraction of skeletal muscle fibers. Produced by neurotoxin produced by Gram-positive, rod shaped anaerobic bacteria

Question 4

Ischemic Heart Attack

Answer 4

Blockage (or vascular spasms) in Coronary vessels rob myocardium of O2 supply, disrupt contractile function and lead to cell death

Question 5

Carnitine deficiency-Primary

Answer 5

-Rare congenital deficiency
Carnitine palmitoyl transferase system
-Prevents renal absorption of carnitine
-Faulty transporter prevents carnitine updake

Question 6

Carnitine deficiency-Secondary

Answer 6

• Decreased carnitine synthesis due to liver disease
• Severe restricted vegetarian diet
• During high metabolic requirements
• Patients undergoing hemodialysis

Question 7

CPT1

Answer 7

• Affects liver mostly
• Cannot synthesize glucose during fasting– decrease gluconeogenesis and ketogenesis
• Hypoketotic hypoglycemia

Question 8

CPT2

Answer 8

-Affects cardiac and skeletal muscle, if sever, liver will be affected
=Muscle cramping and weakness
-Carnitine is not regenerated
-Fat droplets appear in muscle tissue

Question 9

Cystic Fibrosis

Answer 9

Mutation of the CF transmembrane conductance regulator (CFTR) gene
-Decreased pancreatic enzyme secretion

Question 10

Methemoglobinemia

Answer 10

Heme iron is Fe(3); can’t bind or transport O2. Methemoglobin can arise as side effects of some drugs or as reduced activity of methemoglobin reductase

Question 11

Hemoglobin M

Answer 11

Histidine in F8 replaced by tyrosine, this stabilizes Fe(3) form by comoplex formation

Question 12

Hemoglobin S

Answer 12

Valine replaces surface Glu 6 of B-subunit. Creates a “sticky patch”. At low PO2, the beta-unit can polymerize (but not the alpha-subunit), leading ot sickle cel ldisease

Question 13

Myoglobinuria

Answer 13

From massive crush injury, myoglobin released from damage muscle fibers colors the urine red

Question 14

Anemias

Answer 14

Reduction of red blood clls or hemoglobin in blodd. Can reflect impaired synthesis of Hb or productio nof erythrocytes. Spectroscopic measurements are hte beginning of Dx

Question 15

Thalassemias

Answer 15

Genetic defect that results from partial or total absence of one or more alpha or beta chains

Question 16

Glycosylated hemoglobin

Answer 16

Reflects mean blood glucose concentration for last 6-8 weeks. Valuable in Diabetes Mellitus management