All are disorders due to peroxisomal abnormalities except?
A. Pfeiffer syndrome
B. Zellweger syndrome
C. Hyperoxaluria type 1
Correct answer : A. Pfeiffer syndrome
Types of craniosynostosis
Peroxisome is an organelle involved in the metabolism of many molecules including fatty acids, purines and amino acids.
It is bounded by a single membrane and contains more than 50 enzymes.
Pfeiffer syndrome is due to mutations in the gene encoding fibroblast growth factor receptor 1 (FGR1).
It is a craniosynostosis syndrome.
Ref: Harper’s Illustrated Biochemistry, 27th edition, p511, 561.
Image credits: File:Single suture synostosis.png - Wikipedia Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.