Diseases: Mobilization of Stored Fatty Acids Flashcards
1
Q
Refsum Disease -
Enzyme deficiency
A
Deficiency of Fatty Acid Alpha-hydroxilase
2
Q
Clinical manifestations of Refsum Disease
A
- phytanic acid oxidase deficiency
- phytanic acid storage disease
- autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues
- Deficiency of Fatty Acid alpha-hydroxilase that introduces OH group on the alpa carbon of phytonic acid
- Physical manifestations of muscle weakness
- Muscle wasting
- Blindness
- Peripheral neuropathy
3
Q
Treatment of Refsum Disease
A
- Removal of foods that contain phytanic acids: Dairy products, beef, lamb
- Fatty fish= tuna, cod, haddock
- Some may require plasma exchange in which blood is drawn/filtered and reinfused back into body
4
Q
Vitamin B-12
Deficiency of what
A
Cobalamin
5
Q
Cobalamin is what
A
B-12
6
Q
Deficiency in B-12
Clinical manifestations
A
- Methylmalonic academia
- Aciduria
- Metabolic acidosis
- B-12 helps to production of healthy red blood cells which carry oxygen
- Common cause of B12 deficiency is pernicious anemia
7
Q
Who experiences B-12 deficiency
A
- Strict vegan diet, avoiding : meat, eggs, dairy
8
Q
Deficiency of Cobalamin
What is cabalamin
A
Methylmalonic Acidemia is caused by the deficiency of Cobalamin (B12)
9
Q
Define Methylmalonic Acidemia
A
- Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats.
- The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families.
- It is one of several conditions called an “inborn error of metabolism
10
Q
Pernicious Anemia
A
- a deficiency of Vitamin B12 –requiring Enzyme
- The most common cause of pernicious anemia is the loss of stomach cells that make intrinsic factor
- Intrinsic factor helps the body absorb vitamin B12 in the intestine
- The loss of parietal cells may be due to destruction by the body’s own immune system.
