FA Oxidation Diseases Flashcards
1
Q
MCAD
A
Mutation leading to unstable protein
glycine conjugated fatty acids
dicarboxyl fatty acids
hypoglycemia, no ketone bodies
2
Q
Primary Carnation Deficiency
A
Lack of membrane transporters for carnitine
high cytoplasmic carnitine, because carnitine can’t get into the cell
Treatment: Add excess Carnitine
3
Q
Secondary Carnitine DEficiency
A
CAT2 deficiency
can’t get carnitine off of the Acetyl-CoA so there is no free carnitine
high acyl-carnitine in the blood
