Carbohydrate Metab and disorders

Question 1

Normal range of fasting plasma glucose

Answer 1

63-100mg/dl (3.5-5.5mmol/l)

Question 2

in diagnosing DM ;

what is the FVPG level used ?

Answer 2

> = 126mg/dl (7mmol/l) on more than one occasion

Question 3

what is the Random PG used in diagnosing DM

Answer 3

> = 200mg/dl (11.1mmol/l) + symptoms of DM

Question 4

preferred test for diagnosing DM is

Answer 4

Fasting Plasma Glucose

Question 5

major susceptibility gene for type 1 DM is located where ?

Answer 5

HLA region on chromosome 6

Question 6

most specific & sensitive islet autoantibodies for type 1 DM is

Answer 6

Islet cell Cytoplasmic Autoantibodies (ICA)

Question 7

four useful autoantibodies that can be detected at the onset of type 1 DM are ;

Answer 7

(1) Islet Cell cytoplasmic autoantibodies
(2) Glutamic Acid Decarboxylase Antibodies (GAD65)
(3) IA-2A = Insulinoma Associated Antibodies
(4) Zinc Transporter 8 Autoantibodies (ZnT8A)

Question 8

which extra autoantibody is detected in children ?

Answer 8

Insulin AutoAntibody

Question 9

which extra autoantibody is detected in children ?

Answer 9

Insulin AutoAntibody

Question 10

what are the gene associated with type 2 DM

Answer 10

1) Transcription factor-7 like 2 (TCF7L2) gene
2) Caspain 10

Question 11

pathogenesos of type 2 Dm

Answer 11

1) insulin resistance
2) Bcell dysfunction
3) Environmental factors (diet & exercise)

Question 12

screening for GDM is done when ?

Answer 12

24-28weeks using OGTT

Question 13

describe OGTT for GDM women

Answer 13

1) 50g of oral glucose in no fasting patient
2) if VPG > 7.8mmol/L(140mg/dl) proceed to diagnostic test

Question 14

cut off values for GDM

Answer 14

1) fasting > 5.3mmol/l
2) one hr > 10mmol/l
3) two hours > 8.6mmol/l
4) three hours > 7.8mmol/l

Question 15

the most measured glycated plasma protein is

Answer 15

fructosamine

Question 16

in hereditary fructose intolerance there is accumulation of what ?

Answer 16

fructose -1 - phosphate

Question 17

what enzyme is deficient in pentosuria ?

Answer 17

NADP-linked xylitol dehydrogenase

Question 18

what enzyme is deficient in Von Gierke’s disease ?

Answer 18

glucose-6-phosphatase

Question 19

Glycogen storage disease type 2 is a.k.a ?
what enzyme is deficient here ?

Answer 19

Pompe’s disease

*maltase (alpha-1,4-glucosidase)

-skeletal myopathy
-muscular hypotonia
-cardiomyopathy

Question 20

glycogen storage dx type 3 is a.k.a

what enzyme is deficient here ?

Answer 20

Forbes cori
*glycogen debranching enzyme

-growth retardation
-muscle weakness
-cardiomyopathy

Question 21

glycogen storage dx type 4 is a.k.a

what enzyme is deficient here ?

Answer 21

Andersen’s

*glycogen branching enzyme

-hepatomegaly
-splenomegaly
-cardiac defects
-skeletal defects

Question 22

glycogen storage dx type VI is a.k.a

what enzyme is deficient here ?

Answer 22

Hers disease

*glycogen phosphorylase

-short stature

Question 23

glycogen storage dx type V is a.k.a

what enzyme is deficient here ?

Answer 23

Mcardle disease

*myophosphorylase

-affects mostly skeletal muscle

Question 24

glycogen storage dx type VII is a.k.a

what enzyme is deficient here ?

Answer 24

Tarui’s disease

*phosphofructokinase deficiency