Biochem p. 108-111

Question 1

How do you cystine stones look under x-rays?

Answer 1

Radiolucent just like uric acid stones

Question 2

What converts glycogen to glucose?

Answer 2

Glycogenphosphorylase

Question 3

What converts glucose into glycogen?

Answer 3

Glycogen synthase

Question 4

In a fed state what enzyme is inhibited by insulin?

Answer 4

Glycogen phosphorylase

Question 5

Which Nero transmitter stimulates the endoplasmic reticulum to secrete calcium?

Answer 5

Epi from liver

Question 6

Calcium forms which complex in the muscle during contraction in order to stimulate glycogen phosphorylase kinase?

Answer 6

Forms calcium calmodulin complex

Question 7

Does protain kinase A stimulate or inhibit glycogen synthase?

Answer 7

Inhibit

Question 8

What kind of bonds do glycogen branches have vs glycogen linkage bonds?

Answer 8

Linkage –> a-(1,4) bonds

Branch –> a-(1,6) bonds

Question 9

What’s another name for acid maltase? and whats the pathology association?

Answer 9

a-1,4-glucosidase, type II glycogen storage dz

Question 10

Sudden cardiac death in teenager during exercise might be associated with what glycogen storage disease?

Answer 10

Pompe dz/ typ II

Question 11

Which enzyme def causes glycogen storage disease with red urine and muscle breakdown?

Answer 11

McArdle dz/type V

Question 12

What is the enzyme def in the Glycogen storage dz that causes severe fasting hypoglycemia and incr glycogen in liver?

Answer 12

Glucose-6-phosphatase

Question 13

What is the milder form of Von Gierke disease?

type I

Answer 13

Cori disease
(type III)

Question 14

Which co-factor is needed to treat McArdle disease?

Answer 14

vit B6

Question 15

A pt who sufferer from  incr blood lactate, incr triglycerides, incr uric acid, and hepatomegaly needs to watch his diet by avoiding what and taking what?

Answer 15

having frequent oral glucose/cornstarch; avoiding
fructose and galactose
(Von Gierke disease)

Question 16

Which glycogen storage dz doesn’t change the blood glucose levels?

Answer 16

McArdle dz/type V

Question 17

Arylsulfatase A def is seen in?

Answer 17

Metachromatic

leukodystrophy

Question 18

GM2 ganglioside accumulates in what dz?

Answer 18

Tay-Sachs disease

Question 19

Glucocerebroside accumulates in what dz?

Answer 19

Gaucher disease

Question 20

Name 2 X-linked recessive lysosomal storage dz?

Answer 20

Fabry disease, Hunter syndrome

Question 21

Peripheral neuropathy, developmental delay, optic atrophy and globoid cells are found in which lysos storage dz?

Answer 21

Krabbe disease

Question 22

“cherry-red” spot on macula is seen in which pathologies?

Answer 22

Niemann-Pick disease, Tay-Sachs disease, central retinal artery occlusion

Question 23

lipid-laden macrophages is seen in which 2 pathologies?

Answer 23

Niemann-Pick disease, Gaucher disease

Question 24

Osteoporosis, aseptic necrosis of femur and bone crises is seen in which pathology?

Answer 24

Gaucher disease “auch auch”

Question 25

Ceramide trihexoside accumulation can cause what findings in a pt?

Answer 25

Peripheral neuropathy of hands/feet,

angiokeratomas, cardiovascular/renal disease.

Question 26

Peripheral neuropathy is seen in which 2 lysosomal storage dz?

Answer 26

Fabry disease, Krabbe disease

Question 27

Central and peripheral demyelination with ataxia and dementia is seen in which enzyme def that cases a lysosomal storage dz?

Answer 27

Metachromaticnleukodystrophy

Question 28

Pt with dwarfism, unique facial features and bone deformities including an abnormally large head is seen in which lysosomal storage dz?

Answer 28

…gargoylism

Hurler syndrome

Question 29

In whcih of the 2 paths that accumulates Heparan sulfate/dermatan sulfate is the pt’s vision limited?

Answer 29

Hurler syndrome

Question 30

Which enzyme is deficient in the milder form than Hurler’s dz?

Answer 30

Iduronate sulfatase

Question 31

Glycogenphosphorylase is used for what process?

Answer 31

converts glycogen to glucose

Question 32

Glycogen synthase is used in which process?

Answer 32

converts glucose into glycogen

Question 33

How is Glycogen phosphorylase regulated?

Answer 33

It gets inhibited by insulin in a fed state.

Question 34

Calcium calmodulin complex stimulates which enzyme during muscle contraction?

Answer 34

Glycogen phosphorylase kinase

Question 35

Role of Protein phosphatase during fed state. What regulates it?

Answer 35

During fed state insulin stimulates protein phosphate –> stimulates Glycogen synthase => stores glycogen