Disorders due to peroxisomal abnormalities – Biochemistry MCQ

All are disorders due to peroxisomal abnormalities except?
A. Pfeiffer syndrome
B. Zellweger syndrome
C. Hyperoxaluria type 1
D. Acatalasemia

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.
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