Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » Hypophosphatasia
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » Hypophosphatasia
Description
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) MeSH
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Approved Indicated Drugs (1)
Phase 4 Indicated Drugs (6)
Phase 2 Indicated Drugs (1)
Organization Involved with Phase 2 Indications (4)
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UMLS Data
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