Childhood hypophosphatasia
Mulder, A.L.; van den Bos, S.N.; Gerrits, G.P.; Theunissen, P.M.
Nederlands Tijdschrift Voor Geneeskunde 141(27): 1345-1348
1997
ISSN/ISBN: 0028-2162 PMID: 9380189 Document Number: 482805
Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum. Patients show defective bone mineralization, which results in severe deformities of limbs, thorax and skull and dental abnormalities (loss of teeth and caries). The disease is classified in four age-related forms: perinatal, infantile, childhood and adult hypophosphatasia. The perinatal form is usually lethal. There is no curative therapy. Recognition of the disease is of importance for genetic counselling.