High Yield Biochem

Question 1

Lack of UV specific endonuclease causing dry skin and malignant melanoma

Answer 1

Xeroderma Pigmentosum

Question 2

Lack of Aldolase B causing hypoglycemia, jaundice and cirrhosis

Answer 2

Fructose intolerance

Question 3

Lack of fructokinase causing fructosemia and fructosuria

Answer 3

essential fructosuria

Question 4

Lack of galactose-1-phosphate uridyltransferase causing cataracts, hepatosplenomegaly and mental retardation

Answer 4

Galactosemia

Question 5

Causes lactic acidosis and neurologic deficits in alcoholics

Answer 5

pyruvate dehydrogenase deficiency

Question 6

Hemolytic anemia in patients of Mediteranean descent after eating fava beans or taking certain medications like antimalarials

Answer 6

Glucose 6 phosphate dehydrogenase deficiency

Question 7

Hepatocellular accumulation of glycogen caused by a deficiency in glucose-6-phosphatase associated with severe fasting hypoglycemia, lactic acidosis, hyperlipidemia and impaired fructose metabolism

Answer 7

Von Gierke disease (type 1 glycogen storage disease)

Question 8

Accumulation of glycogen in the liver, heart and muscle caused by a deficiency of lysosomal alpha 1,4 glucosidase resulting in cardiomegaly

Answer 8

Pompe Disease (type II glycogen storage)

Question 9

enzyme deficient in Von Gierke disease

Answer 9

Glucose-6-phosphatase

Question 10

enzyme deficient in Pompe disease

Answer 10

alpha 1,4 glucosidase

Question 11

accumulation of glycogen in the liver and heart due to deficiency of debranching enzyme (alpha 1,6 glucosidase) leading to muscular hypotonia

Answer 11

Cori disease (type III glycogen storage)

Question 12

Accumulation of glycogen in skeletal muscle due to a deficiency in glycogen phosphorylase leading to myalgia and myoglobinuria with exercise

Answer 12

McArdle disease (type IV glycogen disease)

Question 13

enzyme deficiency in Cori disease

Answer 13

debranching enzyme (alpha 1,6 glucosidase)

Question 14

enzyme deficient in McArdle disease

Answer 14

glycogen phosphorylase

Question 15

Maple Syrup Urine disease is a buildup of branched chain amino acids (Ile, Val, Leu) because of lack of what enzyme?

Answer 15

alpha ketoacid dehydrogenase

Question 16

Symptoms of PKU

Answer 16

mental retardation, hypopigmentation, mousy odor, eczema

Question 17

Lack of homogenistic acid oxidase leading to darkening of the urine and connective tissues

Answer 17

Alkaptonuria

Question 18

enzyme deficient in Alkaptonuria

Answer 18

homogenistic acid oxidase

Question 19

lack of HGPRT causing an overproduction of uric acid leading to neurologic defects, behavioral abnormalities including self mutilation

Answer 19

Lesch Nyhan syndrome

Question 20

abnormal FMR1 gene with CGG repeats

Answer 20

Fragile X

Question 21

XLR deficiency of alpha-galactosidase A leading to a buildup of ceramide trihxoside which causes pain in the extremities, ocular abnormalities, angiokeratomas, cardiovascular disease and renal failure

Answer 21

Fabry disease

Question 22

AR deficiency of galactosylceramide beta galactosidase leading to cerebral accumulation of galactocerebroside which causes neurologic degeneration

Answer 22

Krabbe Disease (globoid cell leukodystrophy)

Question 23

enzyme deficient in Lesch Nyhan

Answer 23

HGPRT (hypoxanthine guanine phosphoryltransferase)

Question 24

enxyme deficient in Fabry disease

Answer 24

alpha galactosidase A

Question 25

enzyme deficient in Krabbe disease

Answer 25

galactosylceramide beta galactosidase

Question 26

AR deficiency of Beta glucocerebrosidase leading to accumulation of glucocerebroside in brain, bone marrow, spleen, liver causing hepatosplenomegaly, aseptic necrosis of femur and neuro dysfxn

Answer 26

Gaucher disease

Question 27

AR deficiency of sphingomyelinase on chromosome 11 leading to a buildup of sphingomyelin and cholesterol in liver, spleen, lymphatic system resulting in cortical atrophy, cherry red macula and hepatosplenomegaly

Answer 27

Neimann-Pick

Question 28

AR deficiency of hexosaminidase-A on chromosome 18 leading to accumulation of GM2 ganglioside in lysosomes leading to neurologic degeneration, developmental delay, cherry red macula

Answer 28

Tay-Sachs disease

Question 29

enzyme deficient in Gaucher disease

Answer 29

Beta-glucocerebrosidase

Question 30

enzyme deficient in Neimann Pick

Answer 30

sphingomyelinase

Question 31

enzyme deficient in Tay Sachs

Answer 31

Hexosaminidase A

Question 32

AR deficiency of arylsulfatase A leading to accumulation of cerebroside sulfate and dysfunction/demyelination of central and peripheral NS causing ataxia and dementia

Answer 32

Metachromatic leukodystrophy

Question 33

XLR deficiency of iduronate sulfatase leading to accumulation of heparan and derm sulfate leading to MR, coarse facial features, short stature

Answer 33

Hunter's syndrome

Question 34

AR deficiency of alpha-l-iduronidase leading to buildup of partially degraded glycosaminoglycans in lysosomes resulting in gargoyle-like facies, corneal clouding, hepatosplenomegaly, skeletal abnormalities

Answer 34

Hurler Syndrome

Question 35

characterized by defective trafficking of enzymes into lysosomes leading to developmental delay and coarse features

Answer 35

I cell disease

Question 36

enzyme deficient in Metachromatic leukodystrophy

Answer 36

Arylsulfatase A

Question 37

enzyme deficient in Hurler's syndrome

Answer 37

alpha-l-iduronidase

Question 38

enzyme deficient in Hunters syndrome

Answer 38

iduronate sulfatase

Question 39

disease of cells containing "crinkled paper" cytoplasm and glycolipid-laden macrophages

Answer 39

Gaucher disease

Question 40

major enzymatic regulator of glysolysis

Answer 40

Phosphofructokinase

Question 41

major enzymatic regulator of glycogenolysis

Answer 41

glycogen phosphorylase

Question 42

major enzymatic regulator of pentose phosphate pathway

Answer 42

G6PD

Question 43

What turns on PFK-1 and thus glycolysis?

Answer 43

AMP, fructose 2,6 bisphosphate | Glycolysis is inhibited by ATP, citrate and cAMP

Question 44

Glycogen synthase is activated by what molecule?

Answer 44

Glucose 6 phosphate

Question 45

glucose 6 phosphate inhibits what enzyme?

Answer 45

hexokinase

Question 46

4 major enzymes that function in gluconeogenesis

Answer 46

Pyruvate carboxylase, PEP carboxylase, Fructose 1,6 bisphosphatase and Glucose-6-phosphatase (Pathway Produces Fresh Glucose)

Question 47

4 cellular processes supplied by the pentose phosphate pathway

Answer 47

Fatty acid/steroid biosynthesis, Gluthianone reduction of H2O2, Cytochrome P450 system, Respiratory burst

Question 48

2 amino acids playing a key role in transport of nitrogen from the liver periphery

Answer 48

alanine and glutamine

Question 49

toxin that uncouples oxidative phosphorylation by increasing the permeability of the inner mitochondrial membrane

Answer 49

2,4 Dinitrophenol

Question 50

binds to LDL receptor mediating VLDL secretion

Answer 50

Apolipoprotein B100

Question 51

mediates chylomicron remnant uptake

Answer 51

Apolipoprotein E

Question 52

cofactor for lipoprotein lipase

Answer 52

Apolipoprotein CII

Question 53

activates lecthithin cholesterol acyltransferase

Answer 53

Apo AI

Question 54

Amino acids that are exclusively ketogenic

Answer 54

Leucine and Lysine

Question 55

AA used to carry ammonium from the muscles to the liver

Answer 55

Alanine

Question 56

second messengers activated by the Gq receptor

Answer 56

IP3 and DAG

Question 57

second messenger activated by the Gs receptor

Answer 57

cAMP

Question 58

enzyme induced by Gq --> IP3, DAG

Answer 58

protein kinase C

Question 59

enzyme induced by Gs --> cAMP

Answer 59

protein kinase A

Question 60

fat soluble vitamins are absorbed where?

Answer 60

ileum

Question 61

this vitamin can remain in the body with stores lasting 3-5 years

Answer 61

vit B12

Question 62

vitamin that composes NAD and NADP

Answer 62

vit B3 (niacin)

Question 63

component of CoA and fatty acid synthase

Answer 63

vit B5 (panthothenate)

Question 64

toxicity of this vitamin causes nausea, stupor and hypercalcemia

Answer 64

vit D

Question 65

toxicity of this vitamin causes skin changes, arthralgias, premature epiphyseal closure, CNS edema

Answer 65

Vit A (retinol)

Question 66

Vitamin B1 deficiency

Answer 66

Wernicke Korsakoff, beri beri (thiamine def)

Question 67

Vit B3 deficiency

Answer 67

Pellagra (dermatitis, dementia, diarrhea) (niacin)

Question 68

deficiency is caused by long term raw egg ingestion

Answer 68

Biotin (the avidin in egg whites binds it)

Question 69

deficiency of Vit A

Answer 69

dry skin, dry eyes and night blindness

Question 70

deficiency of vitamin E sx

Answer 70

hemolysis from RBC fragility and ataxia

Question 71

deficiency of vit B6 (can be caused by isoniazid use)

Answer 71

EEG changes, peripheral neuropathy (pyridoxine)

Question 72

deficiency of this element characterized by acrodermatitis and changes in sense of taste and smell

Answer 72

Zinc