Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Childhood hypophosphatasia

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.

Management

For therapy Strensiq® (asfotase alfa) is available.

Systematic

Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
Odontohypophosphatasia

References:

1.

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.

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2.

Zurutuza L et. al. (1999) Correlations of genotype and phenotype in hypophosphatasia.

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3.

Hu JC et. al. (2000) Characterization of a family with dominant hypophosphatasia.

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4.

Lia-Baldini AS et. al. (2001) A molecular approach to dominance in hypophosphatasia.

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5.

None (1957) Hypophosphatasia.

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Update: Sept. 26, 2018