Article
Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.
Journal of medical case reports - 20 Dec 2024
Tokuchi Shusuke, Kawano Toshihiro, Ntege Edward Hosea, Murahashi Makoto, Ide Kentaro, Maruyama Nobuyuki, Suzuki Risako, Takai-Nabeta Mirei, Nabeta Tsuyoshi, Tanaka Hideo, Shimizu Yusuke, Nakamura Hiroyuki
Abstract excerpt
BACKGROUND: Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline phosphatase. Because of its low prevalence and non-specific clinical manifestations, underdiagnosis and misdiagnosis are frequent, particularly in Asian populations....
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