Childhood hypophosphatasia is an autosomal recessive disorder caused by mutations of the ALPL gene. The clinical picture includes various disturbances of bone metablism and growth. This leads to growth retardation, reduced mobility, and diffuse bone pain. The teeth show accelerated dental caries and early loss of deciduous dentition.
For therapy Strensiq® (asfotase alfa) is available.
Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.[^]
Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia.[^]
Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia.[^]
Zurutuza L et al. (1999) Correlations of genotype and phenotype in hypophosphatasia.[^]
None (1957) Hypophosphatasia.[^]
OMIM.ORG articleOmim 241510 [^]