Hereditary hypophosphatasia and hyperphosphatasia.
Hereditary hypophosphatasia and hyperphosphatasia are two rare skeletal disorders, which commonly present during childhood and are characterized by a decrease and an increase, respectively, in serum tissue nonspecific alkaline phosphatase activity. The primary defect in hereditary hypophosphatasia appears to be a structural abnormality in the tissue nonspecific alkaline phosphatase gene, resulting in a decrease or absence of enzymatic activity. The pathogenesis of hyperphosphatasia is unknown. There is no treatment for hypophosphatasia. Treatment with pamidronate appears promising for patients with hereditary hyperphosphatasia.
Silve
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Universite Denis Diderot, Paris, France.
D000469:Alkaline Phosphatase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D001842:Bone and Bones / Q000378:metabolism; D002116:Calcitonin / Q000627:therapeutic use; D002118:Calcium / Q000378:metabolism; D005260:Female; D005796:Genes; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D010001:Osteitis Deformans / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D010710:Phosphates / Q000032:analysis / Q000378:metabolism*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D007527:Isoenzymes; D010710:Phosphates; D002116:Calcitonin; D000469:Alkaline Phosphatase; D002118:Calcium