title: Hypophosphatasia in Taiwan: report of two cases.
abstract: Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood. Various clinical manifestations reflect different forms of alkaline phosphatase gene expression. In this report, we present two cases of hypophosphatasia, one of the infantile and the other of the adult form. The infantile case presented with failure to thrive, hypotonia, and radiologic rickets at 4 months old. The adult case had repeated fractures and marked loss of bone density demonstrated by radiographs. Both cases showed extremely low levels of alkaline phosphatase. To the best of our knowledge, they are the first reported patients with hypophosphatasia from the Taiwanese population.
authors.affiliation: Department of Pediatrics, Medical College, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Yen-Yin
authors.initials: YY
authors.lastname: Chou
authors.forename: Horng-Yih
authors.initials: HY
authors.lastname: Ou
authors.forename: Ta-Jen
authors.initials: TJ
authors.lastname: Wu
authors.forename: Shang-Chun
authors.initials: SC
authors.lastname: Tsai
authors.forename: Shio-Jean
authors.initials: SJ
authors.lastname: Lin
authors.forename: Eugene Hsin
authors.initials: EH
authors.lastname: Yu
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood*; D015519:Bone Density; D017809:Fatal Outcome; D005260:Female; D050723:Fractures, Bone / Q000209:etiology; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications / Q000175:diagnosis*; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D012279:Rickets / Q000209:etiology / Q000473:pathology
chemical_list: D000469:Alkaline Phosphatase