Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia

H. Narchi, S. S. Amr, P. M. Mathew, M. R. El Jamil

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Objective: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipo-proteinemia, and elucidation of its pathophysiology in these conditions. Methodology: Two infants aged two and six months with abetalipoproteinemia and hypo-betalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. Results: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin D deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. Conclusion: Steatorrhea-induced calcium mal-absorption seems to be the most likely cause of rickets in this entity.

Original languageEnglish
Pages (from-to)329-333
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3
Publication statusPublished - 2001
Externally publishedYes


  • Abetalipoproteinemia
  • Apolipoprotein
  • Calcium
  • Hypobetalipoproteinemia
  • Lipoprotein
  • Rickets
  • Vitamin D

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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