Article
Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.
Problemy endokrinologii - 2 Dec 2025
Kulikova K S, Papizh S V, Polyakov A V, Marakhonov A V, Beskorovainiy N S, Shumikhina M V, Sozaeva L S, Frolova E B, Kalinchenko N Yu, Yanar E A, Rozhinskaya L Ya, Tikhonovich Yu V, Bogdanov V P, Ioutsi V A, Tyulpakov A N
Abstract excerpt
24-hydroxylase deficiency (or infantile hypercalcemia type 1) is an inherited disease associated with biallelic loss-of-function CYP24A1 mutations lead to impaired inactivation of vitamin D metabolites and characterised hypercalcemia, nephrocalcinosis and/or urolithiasis. We present 44 patients, the largest group (n=41) consisted of children. The main complaints at the time of examination was: weight loss,...
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