All are disorders due to peroxisomal abnormalities except?
Correct Answer: Pfeiffer syndrome
Description: 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.
Category:
Biochemistry
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