Hypophosphatasia — NDEB AFK MCQ
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Correct answer: B — Hypophosphatasia
Hypophosphatasia is a rare inherited metabolic disorder caused by mutations in the ALPL gene, resulting in deficient tissue-nonspecific alkaline phosphatase (TNSALP). Reduced alkaline phosphatase impairs mineralisation of bone and cementum, leading to defective cementum formation and premature exfoliation of primary teeth (particularly incisors) with intact roots. Serum alkaline phosphatase is characteristically low. Papillon-Lefèvre syndrome also causes premature tooth loss but via severe periodontitis due to cathepsin C deficiency.
Reference: Neville – Oral and Maxillofacial Pathology, 4th ed., 2016