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Case Reports
. 2018 Feb 16:11:19-22.
doi: 10.1016/j.plabm.2018.02.001. eCollection 2018 Jul.

Repeatedly low plasma alkaline phosphatase in a 56-year-old woman. A case of hypophosphatasia diagnosed in adulthood

Pia Bükmann Larsen  1 , Ole Bjørn Skausig  2 , Esther A Jensen  1
Affiliations
Case Reports

Repeatedly low plasma alkaline phosphatase in a 56-year-old woman. A case of hypophosphatasia diagnosed in adulthood

Pia Bükmann Larsen et al. Pract Lab Med. .
No abstract available

Keywords: ALP, alkaline phosphatase; ALPL protein; ALPL, synonym to TNSALP; Alkaline phosphatase; HPP, hypophosphatasia; Hypophosphatasia; Metatarsal fracture; P-ALP, plasma alkaline phosphatase; PLP, pyridoxal 5´-phosphate; PPi, inorganic pyrophosphate; Pyridoxal phosphate; TNSALP, the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase.

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Figures

Fig. 1
Fig. 1
Genetic pedigree. Compound heterozygosity was found in the patient (black circle). Her mother (black and white semi-circles) was a carrier of the c.571G>A (p.Glu191Lys)-mutation.
See this image and copyright information in PMC

References

    1. Lum G. Significance of low serum alkaline phosphatase activity in a predominantly adult male population. Clin. Chem. 1995;41:515–518. - PubMed
    1. Fraser W.D. Bone and mineral metabolism. In: Rifai N., Horvath A.R., Wittwer C.T., editors. Tietz Textbook of Clinical Chemistry and Molecular Diagnosis. 6th ed. Elsevier; St. Louis, MO, USA: 2018. pp. 1422–1480.
    1. Whyte M.P. Hypophosphatasia: an overview for 2017. Bone. 2017;102:15–25. - PubMed
    1. Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc. Natl. Acad. Sci. USA. 1992;89:9924–9928. - PMC - PubMed
    1. The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database Versailles, France: University of Versailles Saint-Quentin-en-Yvelines; [updated 04-08-2017. Available from: 〈http://www.sesep.uvsq.fr/03_hypo_mutations.php〉].

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