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Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency. | LitMetric

Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.

JCEM Case Rep

Division of Pediatric Endocrinology and Diabetes, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.

Published: November 2024

AI Article Synopsis

  • An 11-month-old girl with a history of good health experienced growth failure, feeding issues, and irritability, which led to the discovery of severe hypercalcemia (high calcium levels in the blood).
  • Despite initial improvement with hydration, her calcium levels rose again, and tests ruled out common causes while a biopsy showed low disaccharidase levels.
  • Switching her to a disaccharide-free diet resolved her hypercalcemia, and follow-up testing indicated that her condition could have been a transient result of disaccharidase deficiency, with no known mechanism for the hypercalcemia identified.

Article Abstract

A previously healthy 11-month-old, full-term female developed growth failure, feeding intolerance, and irritability starting at 10 months of age. She was found to have a serum calcium level of 3.75 mmol/L (15 mg/dL) (reference range, 2.13-2.62 mmol/L; 8.5-10.5 mg/dL), consistent with severe hypercalcemia. She had bilateral nephrocalcinosis. Hypercalcemia improved with intravenous fluid hydration, but calcium rose again once intravenous fluids were discontinued and while consuming a low-calcium diet. Laboratory tests for common causes of hypercalcemia were negative. Stool-reducing substances were positive on 2 occasions. Endoscopic biopsy confirmed low disaccharidase levels. Her diet was changed to disaccharide-free formula, and hypercalcemia resolved. Genetic testing for congenital disaccharidase deficiency was negative. After repeat endoscopy demonstrating improved disaccharidase levels, disaccharides were incrementally reintroduced to the diet and calcium levels remained normal. This case demonstrates that disaccharidase deficiency, a rare inborn error of metabolism associated with hypercalcemia, may be a transient cause of hypercalcemia. The mechanism of hypercalcemia remains unknown.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11497597PMC
http://dx.doi.org/10.1210/jcemcr/luae190DOI Listing

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