FA Oxidation / Peroxisomal Disorders Flashcards
1
Q
Zellweger’s Syndrome
A
No peroxisome
Build up of VLC FA’s + branched FAs
Problems in multiple organ systems (nervous system)
2
Q
Refsum Disease
A
Lack of alpha-oxidation
build up of phytanic acid –> problems making myelin sheaths (nuero probe)
3
Q
AdrenoLeukodystrophy
A
ABCD1 gene mutation ==== Peroxisomal membrane protein
VLC FAs accumulate
Affects Adrenal glands/Nervous system
4
Q
Jamaican Vomiting Disease
A
SCAD/MCAD problems
hypoglycemia/high FAs in blood
