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Hypophosphatasia

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Definition: 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)  defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES    Other names Hypophosphatasias
 
SubstanceCAS Registry & nameCategoriesSource
asfotase alfa  0   *Alkaline Phosphatase *Immunoglobulin G *Recombinant Fusion Proteins Hypophosphatasia/drug therapy Enzyme Replacement Therapy. N Engl J Med. 2012 Mar 8;366(10):904-13

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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