Carnitine Deficiency Flashcards
1
Q
Function of carnitine
A
mitochondrial transport of long chain fatty-acyl CoA
mitochondrial efflux of short chain acyl CoA
maintenance of free CoASH level in mitochondrial matrix
2
Q
Carnitine derived from
A
diet
synthesized in liver, kidney from essential AAs lysine and methionine
3
Q
Primary deficiency
A
plasma membrane carnitine transporter defect
long chain FAs cannot enter mito matrix -> no B oxidation
-> no energy production + ketone body synthesis
cardiac muscle, CNS, skeletal muscle affected
4
Q
Secondary deficiency
A
carnitine depletion bc formation of acylcarnitine adducts + inhibition of carnation transport in renal cells by acylcarnitines
