An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
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Abstract
Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disease caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene encoding the enzyme 1 alpha-hydroxylase. We report a known VDDRIA case presenting with hypotonia, growth and developmental disorders.
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- last seen: 2026-05-19T01:45:01.086888+00:00