Lipid Metabolism disorders Flashcards
1
Q
What type of genetic disorder is abetalipoproteinemia
A
AR
2
Q
Defiency in what happens in abetalipoproteinemia
A
Apo B48 and Apo B100
3
Q
Defiency in Apo b 48 and Apo b 100 in abetalipoproteinemia leads to what
A
Chylomicrons vldl and ldl absent
4
Q
Affected infants of abetalipoproteinemia present with what symptoms regarding fat absorption
A
Severe fat malabsorption, steatorrhea, failure to thrive
5
Q
The later manifestations of abetalipoproteinemia include
A
Retinitis oigmentosa, spinocereebelae degeneration due to vitamin e defiency, progressive ataxia, acanthocytosis
6
Q
Abetalipoproteinemia treatment
A
Restriction of long chain fatty acids and large doses of oral vitamin E
