A newborn presents with severe hypotonia, seizures, craniofacial dysmorphism (high forehead, flat occiput), and hepatomegaly. Plasma shows elevated very long-chain fatty acids (VLCFAs). The basic defect involves failure of biogenesis of which organelle?
- A Peroxisome ✓
- B Lysosome
- C Mitochondrion
- D Endoplasmic reticulum
Correct answer: A. Peroxisome
Explanation
Zellweger syndrome (cerebrohepatorenal syndrome) is a peroxisome biogenesis disorder (PEX gene mutations) causing impaired beta-oxidation of VLCFAs, leading to their accumulation. Lysosomal disorders include sphingolipidoses. Mitochondrial disorders include MELAS and MERRF. ER stress disorders are distinct.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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