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Hypophosphatasia: who among us is a carrier?

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·2026
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Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B<sub>6</sub> metabolism.

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Pediatric hypophosphatasia: avoid diagnosis missteps!

Michael P Whyte1,2, William H McAlister3, Karen E Mack2

  • 1Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital; St. Louis, MO 63110, United States.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|June 21, 2024
PubMed
Summary

Hypophosphatasia (HPP) is a genetic disorder affecting bones and teeth due to ALPL gene mutations. Early diagnosis of pediatric HPP is crucial for effective management, despite potential diagnostic delays.

Keywords:
ALPLBlount diseasealkaline phosphatasehyperphosphatemiahypophosphatasemiainorganic pyrophosphatemetabolic bone diseaseosteomalaciaosteoporosisphosphoethanolaminepyridoxal 5′-phosphatericketstooth lossvitamin B6

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations in the ALPL gene, leading to deficient tissue-nonspecific alkaline phosphatase (TNSALP) activity.
  • This deficiency results in the accumulation of substrates like inorganic pyrophosphate (PPi), impairing bone and tooth mineralization.
  • HPP exhibits a wide spectrum of severity, from severe perinatal forms to milder childhood and dental-only presentations.

Purpose of the Study:

  • To review current diagnostic approaches for pediatric Hypophosphatasia (HPP).
  • To highlight challenges in diagnosing HPP, as illustrated by a case of delayed diagnosis in a boy with mild childhood HPP.
  • To emphasize the importance of prompt diagnosis for effective management of HPP.

Main Methods:

  • Review of the pathophysiology of HPP, including genetic basis and biochemical markers.
  • Case presentation of a boy with mild childhood HPP, detailing diagnostic delays.
  • Discussion of diagnostic criteria, including genetic testing, biochemical assays, and radiographic findings.

Main Results:

  • The biochemical signature of HPP includes hypophosphatasemia and elevated plasma levels of phosphoethanolamine (PEA), inorganic pyrophosphate (PPi), and pyridoxal 5 -phosphate (PLP).
  • Diagnostic delays can occur due to misinterpretations of medical history, physical exams, radiographic, and laboratory findings.
  • Despite diagnostic challenges, ALPL gene testing and TNSALP supplementation therapy are advancing HPP management.

Conclusions:

  • Accurate and timely diagnosis of pediatric HPP is essential for appropriate treatment and management.
  • Understanding the broad clinical spectrum and potential diagnostic pitfalls is critical for pediatricians and dentists.
  • Prompt identification of HPP as an inborn error of metabolism facilitates safe and effective care.