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Related Experiment Video

Updated: Mar 2, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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[SEVERE INFANTILE HYPOPHOSPHATASIA].

Evgenia Gurevich1, Daniel Landau1

  • 1Department of Pediatrics, Saban Children's Medical Center, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel.

Harefuah
|May 23, 2017
PubMed
Summary

Hypophosphatasia, a metabolic disorder, presents with low alkaline phosphatase activity due to TNSALP gene mutations. Early diagnosis is crucial for infantile cases, as shown in a rare Israeli infant with a homozygous mutation.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Hypophosphatasia is an inherited metabolic disease characterized by low serum alkaline phosphatase activity.
  • It results from loss-of-function mutations in the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene.
  • Manifestations vary widely, from severe neonatal skeletal issues to adult dental problems.

Observation:

  • A 5-month-old infant in Israel presented with a bulging fontanel, neonatal seizures, respiratory distress, hypercalcemia, and profoundly low alkaline phosphatase levels.
  • This case represents the first reported instance of infantile hypophosphatasia in Israel.
  • The infant was diagnosed with a homozygous mutation in the TNSALP gene.

Findings:

  • The infant's clinical presentation and laboratory findings were consistent with severe infantile hypophosphatasia.

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  • Genetic analysis confirmed a homozygous mutation in the TNSALP gene, causative of the disease.
  • This diagnosis highlights the importance of recognizing rare genetic disorders even in regions with no prior reports.

    • Implications:

    • Early diagnosis of hypophosphatasia is critical, especially with the availability of enzyme replacement therapy.
    • This case underscores the need for increased awareness and diagnostic vigilance for rare metabolic diseases in pediatric populations.
    • Further research into TNSALP mutations and their phenotypic variability is warranted.