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[Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].

Nephrologie & therapeutique - 1 May 2017

Seidowsky Alexandre, Villain Cédric, Vilaine Eve, Baudoin Roselyne, Tabarin Antoine, Kottler Marie-Laure, Cavalier Étienne, Souberbielle Jean-Claude, Massy Ziad A

Abstract excerpt

We present the case of a family whose members have high levels of serum calcium (hypercalcaemia) by loss of function of the enzyme vitamin D 24-hydroxylase due to bi-allelic mutations in the CYP24A1 gene: c.443 T>C (p.Leu148Pro) and c.1187 G>A (p.Arg396Gln). 24-VITD hydroxylase is a key player in regulating the circulating calcitriol, its tissue concentration and its biological effects. Transmission is recessive....

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PMID: 28456639
DOI: 10.1016/j.nephro.2017.01.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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