LIPOPROTEINS II

Question 1

is an autosomal dominant disorder caused by DEFECIENT/ DEFECTIVE LDL RECEPTOR

a. famillial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 1

familial Hypercholesterolemia (Type 2a)
  - DEFECTIVE/ DEFECIENT LDL receptor
  (+) xanthalesma and planar (tendon) xanthomas

Question 2

involves accumulation of plasma VLDL rich in cholesterol and chylomicron

a. famillial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 2

familial Dysbetalipoproteinemia / type 3 hyperlipoproteinemia

• accumulation of plasma VLDL rich in cholesterol and chylomicron (VLDL!!!)
• presence of apo E/E2
• involves both endogenous and exogenous pathway in lipoprotein metabolism

Question 3

defective apo b synthesis

a. famillial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 3

abetalipoproteinemia

• autosomal recessive disorder
• DEFECTIVE APO - B SYNTHESIS
• defecient fat soluble vitamins

Question 4

deficient to fat soluble vitamins

a. familial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 4

abetalipoproteinemia

• autosomal recessive disorder
• DEFECTIVE APO - B SYNTHESIS
• deficient fat soluble vitamins

Question 5

characterized by cerebellar ataxia, acanthocytosis and fat malabsorption

a. familial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 5

abetalipoproteinemia

• autosomal recessive disorder
• DEFECTIVE APO - B SYNTHESIS
• deficient fat soluble vitamins
• associated with deficiency of MICRODOMSL TAG TRANSFER PROTEIN (MTP)
• characterized by CEREBELLAR ATAXIA, ACANTHOCYTOSIS , FAT MALABSORPTION

Question 6

it is due to defective apo b synthesis resulting POINT MUTATION IN APO- B

a. familial Hypercholesterolemia
b. familial dysbetalipoproteinemia
c. abetalipoproteinemia
d. hypobetalipoproteinemia

Answer 6

HYPPOBETALIPOPROTEINEMIA

Question 7

it is an inherited disorder of lipid metabolism

a. hypolipoproteinemia
b. niemann pick disease
c. tangler’s disease
d. lipoprotein lipase deficiency

Answer 7

Niemann pick disease (Lipid storage disease)

• inherited disorder of lipid metabolism
• acccumulations of spingomyelin in the bone marrow ,spleen and lymph nodes
• involves deficiency of enzyme responsible for REMOVING PHOSPHORYLCHOLINE FROM SPINGOMYELIN

Question 8

LOW BLOOD CHOLESTEROL AND ABNORMAL ORAGE OR YELLOW DISCOLORATION OF THE TONSILS AND PHARYNX

a. hypolipoproteinemia
b. niemann pick disease
c. tangler’s disease
d. lipoprotein lipase deficiency

Answer 8

TANGLER’S DISEASE

• low blood Cholesterol
• yellow or orange tonsils and pharynx
• HDL is abnormal and significantly reduced due to increased HDL catabolism

Question 9

milder form of LCAT deficiency

a. tay sachs disease
b. fish eye disease
c. niemann pick disease
d. tanglers disease

Answer 9

Lecithin Cholesterol Acyl transferase (LCAT) Deficiency
- clinical finidngs : Corneal opacities, normochromic anemia , and renal failure in young adults

• FISH EYE DISEASE is milder form of LCAT deficiency

Question 10

accumulation of spingolipids in the brain

a. tay sachs disease
b. fish eye disease
c. niemann pick disease
d. tanglers disease

Answer 10

Tay - sachs disease

• is an inherited NEURODEGENERATIVE disorder of lipid metabolism
• deficiency of the HEXOSAMINIDASE A
• accumulation of spingolipids in the brain