This article provides an overview of the current knowledge on hypophosphatasia—a rare genetic disease of very variable presentation and severity—with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

中文翻译：

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青少年和成年人的低磷酸盐血症：诊断和治疗概述

本文概述了关于低磷血症的最新知识，低磷血症是一种表现形式和严重程度不同的罕见遗传疾病，其重点是青少年和成年人。它总结了有关组织非特异性碱性磷酸酶（TNSALP）的许多已知突变，青少年和成人疾病的流行病学和临床表现以及必要的诊断线索的可用信息。最后一部分回顾了治疗方法，包括有关酶替代疗法（EnzRT）的最新报道。