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Updated: May 23, 2026

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Infantile hypophosphatasia caused by compound heterozygous variants in the ALPL gene: a case report

Qian Wu1, Min Xiang1, Wei Xiong1

  • 1Department of Neonatology, Affiliated Hospital of Guizhou Medical University/Guizhou Hospital, First Affiliated Hospital of Sun Yat-Sen University Guiyang 550000, Guizhou, China.

American Journal of Translational Research
|May 22, 2026
PubMed

Insights

This study details an infantile hypophosphatasia case caused by compound heterozygous alkaline phosphatase-liver/bone/kidney (ALPL) gene mutations. The infant exhibited severe symptoms, highlighting the genetic basis of this rare bone disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Infantile hypophosphatasia (HPP) is a severe genetic disorder characterized by defective bone mineralization.
  • It is caused by mutations in the alkaline phosphatase-liver/bone/kidney (ALPL) gene, leading to deficient enzyme activity.

Keywords:
ALPL geneInfantile hypophosphatasiacase reportenzyme replacement therapy

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