Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23768816.
- Also identified by DOI 10.1016/j.jpeds.2013.04.056.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
Medical subject headings
- Dietary Supplements
- Hypercalcemia
- Infant, Newborn, Diseases
- Metabolism, Inborn Errors
- Mutation
- Steroid Hydroxylases
- Vitamin D