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Article

Adult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report.

American journal of medical genetics. Part A - 1 May 2025

Chen Yan, Liang Jian, Hu Yuhua, Hong Yunyun, Liu Qiang

Abstract excerpt

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder caused by biallelic variants in the transient receptor potential melastatin 6 (TRPM6) gene, typically presenting in infancy. Currently, there is a lack of reports in the literature on adult-onset cases. This case report describes a 51-year-old male with adult-onset HSH, presenting with limb weakness, muscle spasms,...

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Identifiers

PMID: 39831378
DOI: 10.1002/ajmg.a.63982

Genes

TRPM6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Adult-Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report.PMID 39831378Read ↗

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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.Semantic proximity Read ↗

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