Hypophosphatasia is a group of diseases caused by mutations of the ALPL gene. Inheritance is autosomal dominant and recessive. Various forms may be distinguished by the age of clinical manifestation from infancy to adulthood. The clinical picture resembles vitamin D resistent rickets. Laboratory findings include hypercalcemia and ethanolamine phosphatemia.
Parameter | Interpretation |
---|---|
Serum calcium | elevated |
Serum phosphate | elevated |
Serum alkaline phosphatase | low |
Parameter | Interpretation |
---|---|
Serum ethanolamine phosphate | elevated |
Urinary excretion ethanolamine phosphate | elevated |
For therapy Strensiq® (asfotase alfa) is available.
1. |
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None () Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. |
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8. |
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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20. |
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22. |
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23. |
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24. |
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25. |
Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia. |
26. |
Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia. |
27. |
Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. |
28. |
Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide. |
29. |
Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. |
30. |
Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. |
31. |
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32. |
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33. |
Whyte MP et al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred. |
34. |
Whyte MP et al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. |
35. |
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36. |
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37. |
Eade AW et al. (1981) Pyrophosphate arthropathy in hypophosphatasia. |
38. |
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39. |
Whyte MP et al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. |
40. |
Whyte MP et al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. |
41. |
Weinstein RS et al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. |
42. |
Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. |
43. |
OMIM.ORG article Omim 146300 |
44. |
Orphanet article Orphanet ID 436 |
45. |
Wikipedia article Wikipedia EN (Hypophosphatasia) |