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Article

Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Sept 2012

Habeb Abdelhadi M, Al-Harbi Hanan, Schlingmann Karl P

Abstract excerpt

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was...

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Share to Basal Ganglia Diseases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Magnesium

Share to Renal Tubular Transport, Inborn Errors

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Share to Tomography, X-Ray Computed

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Source

Identifiers

PMID: 22982920
DOI: 10.4103/1319-2442.100945

Genes

TRPM6

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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Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.PMID 22982920Read ↗

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Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation.Semantic proximity Read ↗

Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.Semantic proximity Read ↗

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