Cell metablism 2 (beta oxidation disorders) Flashcards
1
Q
What are the 4 types of Acyl CoA Dehydrogenases
A
short chain Acyl CoA dehydrogenase (<6C)
Medium Chain Acyl CoA dehydrogenase (C6-C12)
Long Chain 3 hydroxyacyl CoA dehydrogenase (C13-C21)
Very Long Chain Coa dehydrogenase (C22+)
2
Q
What is MCADD
A
Medium Chain Acyl CoA dehydrogenase deficiency
3
Q
What is the prevelence of MCADD
A
1 in 10,000 live births in the UK
4
Q
What ethnic group is MCADD predominantly in
A
caucasians
5
Q
how many infants that die from Sudden Infant Death syndrome die from MCADD
A
1 in 100
6
Q
How is MCADD screened for
A
heel prick screen
7
Q
How is MCADD managed
A
high carbohydrate diet
never go 10 to 12 hours without food
patients with less appetite may need IV glucose
