Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Infantile hypophosphatasia

Infantile hypophosphatasia is an autosomal recessive disorder caused by mutations of the ALPL gene. Of all hypophosphatasias this is the most severe form that manifests in early childhood and is lethal in about 50% of cases.

Management

For therapy Strensiq® (asfotase alfa) is available.

Systematic

Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia

References:

1.

Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

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2.

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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3.

Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

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4.

Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

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5.

Stevenson DA et al. (2008) Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

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6.

Weiss MJ et al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

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7.

Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.

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8.

Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

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9.

Unger S et al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.

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10.

None (1957) Hypophosphatasia.

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11.

Scriver CR et al. (1969) Pseudohypophosphatasia.

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12.

None () Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case.

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13.

Méhes K et al. (1972) Hypophosphatasia: screening and family investigations in an endogamous Hungarian village.

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14.

Warshaw JB et al. (1971) Serum alkaline phosphatase in hypophosphatasia.

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15.

Whyte MP et al. (1984) Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients.

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16.

Eastman JR et al. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.

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17.

Albeggiani A et al. (1982) Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years.

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18.

Wolff C et al. (1982) Hypophosphatasia congenita letalis.

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19.

Whyte MP et al. (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease.

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20.

Eastman J et al. (1982) Lethal and mild hypophosphatasia in half-sibs.

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21.

Kousseff BG et al. (1981) Prenatal diagnosis of hypophosphatasia.

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22.

Vandevijver N et al. (1998) Lethal hypophosphatasia, spur type: case report and fetopathological study.

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23.

BETHUNE JE et al. (1960) Hypophosphatasia in the adult.

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24.

RATHBUN JC et al. (1961) Hypophosphatasia: a genetic study.

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25.

Cahill RA et al. (2007) Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

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26.

None (1948) Hypophosphatasia; a new developmental anomaly.

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27.

Zankl A et al. (2008) Specific ultrasonographic features of perinatal lethal hypophosphatasia.

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28.

Whyte MP et al. (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia.

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29.

Rudd NL et al. (1976) Prenatal diagnosis of hypophosphatasia.

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30.

Mulivor RA et al. (1978) Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies.

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31.

Kishi F et al. (1991) Prenatal diagnosis of infantile hypophosphatasia.

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32.

Greenberg CR et al. (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.

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33.

Shohat M et al. (1991) Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.

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34.

Fedde KN et al. (1990) Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.

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35.

Chodirker BN et al. (1990) Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

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36.

Moore CA et al. (1990) Infantile hypophosphatasia: autosomal recessive transmission to two related sibships.

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37.

Weiss MJ et al. (1989) Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

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38.

Warren RC et al. (1985) First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase.

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39.

Chodirker BN et al. (1987) Infantile hypophosphatasia--linkage with the RH locus.

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40.

Whyte MP et al. (1986) Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase.

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41.

Cole DE et al. (1986) Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.

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42.

None (1985) Inheritance of hypophosphatasia.

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43.

Ornoy A et al. (1985) Histologic and ultrastructural studies on the mineralization process in hypophosphatasia.

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44.

Pimstone B et al. (1966) Hypophosphatasia: genetic and dental studies.

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45.

Eisenberg E et al. () Hypophosphatasia in an adult. A case report.

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46.

Teree TM et al. (1968) Hypophosphatasia: clinical and metabolic studies.

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47.

OMIM.ORG article

Omim 241500 [^]
48.

Orphanet article

Orphanet ID 247651 [^]
Update: April 29, 2019