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Updated: Sep 19, 2025

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Congenital Lactase Deficiency, An Unusual Cause of Infantile Hypercalcemia

Sayan Banerjee1, Yogita Soyal2, Chennakeshava Thunga3

  • 1Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Indian Journal of Pediatrics
|June 19, 2025
PubMed

Insights

Congenital lactase deficiency can cause infantile hypercalcemia and diarrhea. Lactose-free feeding rapidly resolved symptoms and normalized calcium levels in an infant case study.

Area of Science:

  • Pediatric Endocrinology
  • Gastroenterology
  • Metabolic Disorders

Background:

  • Infantile hypercalcemia is rare, and its association with diarrhea presents a diagnostic challenge.
  • Persistent watery diarrhea, abdominal distension, and failure to thrive since early neonatal age are key indicators.

Purpose of the Study:

  • To report a unique case of infantile hypercalcemia secondary to congenital lactase deficiency.
  • To highlight the diagnostic and therapeutic implications of this rare condition.

Main Methods:

  • Case report of an infant presenting with hypercalcemia and gastrointestinal symptoms.
  • Diagnostic workup including metabolic assessment.
  • Therapeutic intervention with lactose-free feeds.

Main Results:

  • The infant exhibited symptoms of hypercalcemia, diarrhea, abdominal distension, and failure to thrive.
  • Congenital lactase deficiency was diagnosed as the underlying cause.
  • Normalization of calcium levels and resolution of symptoms occurred within one week of initiating lactose-free feeds.

Conclusions:

  • Congenital lactase deficiency should be considered in infants presenting with unexplained hypercalcemia and diarrhea.
  • Lactose-free dietary management is an effective treatment for this condition.
  • Early diagnosis and appropriate management lead to favorable outcomes, including catch-up growth.

Keywords:
Carbohydrate malabsorptionCongenital lactase deficiencyHypercalcemiaLactose free diet

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