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Article

Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Nov 2023

Zheng Zhichao, Wu Yujie, Wu Huiping, Jin Jiahui, Luo Yue, Cao Shunshun, Shan Xiaoou

Abstract excerpt

OBJECTIVES: Infantile hypercalcemia-1 (HCINF1) is a rare disease caused by pathogenic variants in the CYP24A1 gene, resulting in the inability to metabolize active vitamin D. This leads to hypercalcemia and severe complications. CONTENT: On December 8th, 2022, a systematic literature search was conducted in PubMed, Wanfang, and CNKI using the keywords "hypercalcemia" and "CYP24A1". Data extraction included...

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Share to Hypercalcemia
Share to Infant, Newborn, Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

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Share to Vitamin D

Share to Vitamin D3 24-Hydroxylase

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Source

Identifiers

PMID: 37768904
DOI: 10.1515/jpem-2023-0147

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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