Structured Summary
Abstract
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
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1 entry terms
- Hypophosphatasias
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34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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Indexing Annotation
defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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72(66)
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References
- National Library of Medicine. Hypophosphatasia. Medical Subject Headings (MeSH). 2026. Unique ID D007014. http://id.nlm.nih.gov/mesh/2026/D007014
- Hypophosphatasia. In: Wikipedia. https://en.wikipedia.org/wiki/Hypophosphatasia
- Hypophosphatasia. In: Wikidata. https://www.wikidata.org/wiki/Q1313510