Carnitine Deficiency

Question 1

Function of carnitine

Answer 1

mitochondrial transport of long chain fatty-acyl CoA
mitochondrial efflux of short chain acyl CoA
maintenance of free CoASH level in mitochondrial matrix

Question 2

Carnitine derived from

Answer 2

diet

synthesized in liver, kidney from essential AAs lysine and methionine

Question 3

Primary deficiency

Answer 3

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

Question 4

Secondary deficiency

Answer 4

carnitine depletion bc formation of acylcarnitine adducts + inhibition of carnation transport in renal cells by acylcarnitines