Diseases

Question 1

Niemann Pick

Answer 1

Acid sphingomyelinase

spingomyelin build up in liver, spleen, bone marrow, and CNS

Question 2

Cystic Fibrosis

Answer 2

CFTR

Cl- builds up in cells, Na and H2O follow

Question 3

Cystine Urea

Answer 3

COAL transporter (Cystine, ornithine, arginine, lysine)
A.A. build up and form crystals

Question 4

Hartnup Disease

Answer 4

Non polar/neutral a.a. transporters (i.e. trp)

Build up in intestines and kidneys

Question 5

Lactose Intolerance

Answer 5

Lactase deficient

Cannot breakdown into glucose and galactose

Question 6

Lactic Acidosis

Answer 6

Phosphatase

Lactate build u, Acetyl CoA not created

Question 7

2-oxoglutaric aciduria

Answer 7

alpha-ketoglutarate dehydrogenase

a-ketoglutaric acid

Question 8

Fumarase Deficiency

Answer 8

Fumarase

Fumarate -neuro impairment, encephalomyopathy, dystonia

Question 9

Succinyl CoA Synthetase Deficiency

Answer 9

SCS-SUCLA2 and SUCLG1 errors

Citrate and 2-hydroxyl gutarate act as oncometabolites and promote cancer growth

Question 10

LUFT’s Disease

Answer 10

Functioning mitochondria are lacking
Leads to uncoupling of OxPhos, increase of cytochrome C oxidase, decrease coenzyme Q, high RNA content, accumulation of different sized mitochondria.

Question 11

Tauri Disease

Answer 11

PFK-1

Fructose 6-P builds up, muscle crams, weakness, hemolytic anemia, bilirubin and jaundice

Question 12

Failure of glycolysis in RBCs

Answer 12

ATP deficient

Disrupts ion gradient, results in hemolytic anemia

Question 13

Type 1 Diabetes

Answer 13

pancreatic B cells are deficient, blood glucose builds up

Question 14

Type 2 Diabetes

Answer 14

insulin response is deficient, blood glucose builds up

Question 15

Hemolytic anemia

Answer 15

Decrease in ATP and functional enzymes, intracellular Na causes swelling and lysis

Question 16

Fanconi-Bickel Syndrome

Answer 16

Functioning Glut 2, unable to take up glucose, fructose and galactose, glucose cannot enter cells results in failure to thrive, hepatomegaly, and bloating

Question 17

F1,6BP deficiency

Answer 17

F1,6BPase

F1,6BP builds up, glucose cannot be made via gluconeogenesis–hypoglycemia, lactic acidosis, and ketosis

Question 18

GSD1/Von Gierke Disease

Answer 18

G6Pase, G6P builds up in cells, hypolycemia, lactic acidosis, hepatomegaly result

Question 19

Galactosemia

Answer 19

GALT deficient - galactitol builds up and results in failure to thrive
Galactokinase deficient - galactose and galactitol build up in the urine, results in cataracts

Question 20

GSD 0

Answer 20

glycogen synthase deficient, hypoglycemia and muscle cramps result

Question 21

GSDII/Pompe disease

Answer 21

Acid maltase/acid a-ketoglutarase deficient. Glycogen builds up in lysosomes, results in muscle weakness and death

Question 22

GSD III/Cori disease

Answer 22

a-1,6-glucosidase deficient, glycogen molecules with short branches build up, results in hepatosplenomegaly and hypoglycemia

Question 23

GSD IV/Andersen Disease

Answer 23

Glucosyl (4:6) transferase deficient, long chains with few branches build up and cause hepatosplenomegaly and cirrhosis

Question 24

GSD V/McArdle Disease

Answer 24

Muscle glycogen phosphorylase deficient, glycogen build up, results in muscle weakness, fatigue, cramping, and breakdown

Question 25

GSD VI/Hers Disease

Answer 25

Liver glycogen phosphorylase deficiency, glycogen builds up, low blood glucose and hepatomegaly result

Question 26

Erythroblastosis fetalis

Answer 26

Incompatibility between blood of mother and fetus, mom is rh-, fetus is rh+

Question 27

Spur Cell Anemia

Answer 27

Elevated levels of cholesterol in RBC, decreases membrane fluidity. When RBCs pass through capilaries in the spleen they burst.