Pediatric bone and mineral working group
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Article
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2004
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American Society for Bone and Mineral Research
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English
β 26 KB
Hypophosphatasia (HPP), an inborn-error-of-metabolism characterized biochemically by subnormal serum levels of alkaline phosphatase (ALP), is caused by deactivating mutations in the gene which encodes the tissue-nonspecific ALP isoenzyme (TNSALP). Radiographs in "childhood" HPP typically show ricket