Background: Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene. Clinically, the condition is characterized by hypocalcemic rickets in early infancy due to a deficit in the production of the vitamin D active metabolite 1,25-dihydroxy-vitamin D.
Case Report: We report the case of a patient diagnosed at 11 months with follow-up until 9 years of age.
Conclusions: The pathophysiology of the disease and the relevance of early diagnosis and management are discussed.
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| http://dx.doi.org/10.1016/j.bmhimx.2015.03.008 | DOI Listing |
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