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Adult Hypophosphatasia Treated with Teriparatide
Author(s) -
Michael P. Whyte,
Steven Mumm,
Chad Deal
Publication year - 2007
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-1902
Subject(s) - hypophosphatasia , teriparatide , medicine , pediatrics , chemistry , alkaline phosphatase , osteoporosis , biochemistry , enzyme , bone mineral
Hypophosphatasia (HPP) features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) due to loss-of-function mutation within TNSALP, the gene that encodes "tissue-nonspecific" ALP (TNSALP). Consequently, inorganic pyrophosphate accumulates extracellularly and impairs skeletal mineralization. Affected adults manifest osteomalacia, often with slowly healing metatarsal stress fractures (MTSFs) and proximal femur pseudofractures. Pharmacotherapy remains elusive.

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