Diseases: Metabolism of Dietary Lipids

Question 1

Congenital Abetalipoproteinemia is a deficiency in what type of enzyme

Answer 1

Apolipoproteins B-48

Question 2

Apo-B-48 Causes what type of disease

Answer 2

Abetalipoproteinemia

Question 3

Describe Abetalipoproteinemia disease

Answer 3

1. A rare autosomal recessive
2. disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food (Cholesterol, dietary fats, certain vitamins)
3. People are not able to make certain lipoproteins which are molecules that consist of proteins combined with cholesterol and particula fats called triglycerides.
   This leads to a multiple Vitamin deficiency affecting fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K.[6] However, many of the observed effects are due to vitamin E deficiency in particular.
   It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively.
4. It is not to be confused with familial dysbetalipoproteinemia.

Question 4

In Type 1 Hyperlipidemia-

What is the defficient enzyme

Answer 4

Apo C-II

Capillary Lipoprotein Lipase

Question 5

In Type 1 Hyperlipidemia-

What Lipoprotein is elevated

Answer 5

Chylomicrons

Question 6

What are chylomicrons

Answer 6

Chylomicrons are lipoprotein particles that consist of triglycerides, phospholipids, cholesterol, and proteins. They transport dietary lipids from the intestines to other locations in the body.

Question 7

Clinical Manifestations of Type 1 Hyperlipidemia

Answer 7

1. Accumulation of Chylomicrons in the enterocytes
2. No risk of atherosclerosis
3. High plasma TAG’s
4. Eruptive xanthomas

Question 8

Define Atherosclerosis

Answer 8

Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood.

Question 9

Type II Hyperlipidemia- (A)

Elevation of what Lipoprotein

Answer 9

LDL (low density lipoprotein)

Question 10

Type II Hyperlipidemia-(B)

Elevation of what Lipoprotein

Answer 10

LDL & VLDL

Question 11

Type II Hyperlipidemia-(A)

What is the defect

Answer 11

1. Deficiency of LDL receptor
2. Genetic defect in synthesis, processing, or functioning of LDL receptor
3. Familial hypercholesterolemia
4. High risk in atherosclerosis

Question 12

Type II Hyperlipidemia-(B)

What is the defect

Answer 12

Unknown

Question 13

Type III Hyperlipidemia-

What enzyme deficiency

Answer 13

Apo Lipoprotein E

Question 14

Type III Hyperlipidemia-

Elevation of what Lipoprotein

Answer 14

1. Accumulation of Chylomicron remnants in plasma
2. IDl (Intermediate Lipoprotein)
3. Small risk in atherosclerosis

Question 15

Type 4 Hyperlipidemia-

Elevated Lipoproteins ?

Answer 15

VLDL

Question 16

Type 4 Hyperlipidemia-

Possible clinical cause

Answer 16

Increased VLDL due to:

1. Obesity
2. Alcohol
3. Diabeties
4. No risk of atherosclerosis

Question 17

Type 5 Hyperlipidemia-

Clinical defects

Answer 17

1. Increase in Chylomicrons
2. Inc- TAGs
3. Inc-VLDL
4. Pancreatitis

Question 18

Wolman Disease 
Clinical defects
Additional description (personal)

Answer 18

1. Inability to hydrolize (break down of comp. by chemical reaction in H2O) lysosomal cholesterol esters
2. Most severe expression of LIPA deficiency (lysosomal acid lipase)
3. Part of Lysomomal Storage Disease
4. Wolman disease is a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) certain fats (lipids) in the body. Without the LIPA enzyme, certain fats may abnormally accumulate in the tissues and organs of the body causing a variety of symptoms. Wolman disease may cause bloating or swelling of the stomach (abdominal distention), vomiting, and significant enlargement of the liver or spleen (hepatosplenomegaly). Life-threatening complications often develop during early childhood. Wolman disease is caused by mutations of the lysosomal acid lipase (LIPA) gene. The disorder is inherited as an autosomal recessive trait.

Question 19

Familial LCAT deficiency-

Define

Answer 19

1. Complete absence of LCAT (Lecithin-cholesterol acyltransferase)
2. Genetic disorder
3. Kidney failure

Question 20

Familial LCAT deficiency cause what

Answer 20

1. Build up of Cholesterol in tissues Throughout the body -Cornea & Kidney
2. Causes kidney failure

Question 21

Zellweger Disease

Describe deficiency

Answer 21

1. Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD).
2. Lipase storage disease caused by impaired peroxisome biogenesis- long chain of Fatty Acids accumulation due to inability of being degraded

Question 22

X-linked Leukodystrphy

Disease caused by deficiency in what enzyme

Answer 22

Peroxisomal disease

Question 23

X-linked Leukodystrophy

Clinical defects

Answer 23

1. defective peroxisomal activation of VLCFAs
2. Destroyed Myelin
3. Inherited neurological disorder arising form inability to transport VLCFAs to peroxisomal membrane

Question 24

X-linked Leukodystrophy

Clinical defects

Answer 24

1. defective peroxisomal activation of VLCFAs
2. Destroyed Myelin
3. Inherited neurological disorder arising form inability to transport VLCFAs to peroxisomal membrane
   (VLCFA’s-Very long Chain Fatty Acids)

Question 25

What are two examples of Peroxisome Diseases

Answer 25

1. Zellweger Disease

2. X-Linked Leukodystrophy

Question 26

Type 1 Hyperlipoproteinemia

Answer 26

Also know as Hyperchylomicronemia

-Genetic disorder characterized by inability to degrade triacylglycerols in blood lipoproteins