{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T05:01:32Z","timestamp":1794459692865,"version":"4.9.1"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,15]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to <jats:italic>TRPM6<\/jats:italic> gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be treated only by long-term oral magnesium supplements. The patient presented to us with recurrent hypocalcaemic convulsions. The laboratory picture in each admission was similar to that of hypoparathyroidism. However, the hypocalcaemia persisted, and it was noticed to be associated with persistent hypomagnesaemia. A defect in the tubular magnesium reabsorption was postulated and a genetic analysis of the patient was done, which revealed a <jats:italic>TRPM6<\/jats:italic> mutation causing hypomagnesaemia by excessive renal excretion of magnesium. The child responded well to oral magnesium supplements and is currently developmentally appropriate for her age and thriving well.<\/jats:p>","DOI":"10.1136\/bcr-2023-257505","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T02:30:23Z","timestamp":1709001023000},"page":"e257505","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by <i>TRPM6<\/i> gene mutation"],"prefix":"10.1136","volume":"17","author":[{"given":"Savita","family":"Khadse","sequence":"first","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7784-5245","authenticated-orcid":false,"given":"Vrushali Satish","family":"Takalikar","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha","family":"Ghildiyal","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8206-3979","authenticated-orcid":false,"given":"Nikhil","family":"Shah","sequence":"additional","affiliation":[{"name":"Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India"},{"name":"Division Of Pediatric Endocrinology, Department of Pediatrics, Surya Children's Hospital, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"2025082710560938000_17.2.e257505.1","doi-asserted-by":"crossref","DOI":"10.1155\/2019\/4318075","article-title":"Clinical approach to hypocalcaemia in newborn period and infancy: who should be treated","volume":"2019","author":"Vuralli","year":"2019","journal-title":"Int J Pediatr"},{"key":"2025082710560938000_17.2.e257505.2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1976.tb01947.x"},{"key":"2025082710560938000_17.2.e257505.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04092.x"},{"key":"2025082710560938000_17.2.e257505.4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.178"},{"key":"2025082710560938000_17.2.e257505.5","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013040337"},{"key":"2025082710560938000_17.2.e257505.6","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.875013","article-title":"Novel CNNM2 mutation responsible for autosomal-dominant hypomagnesaemia with seizure","volume":"13","author":"Tseng","year":"2022","journal-title":"Front Genet"},{"key":"2025082710560938000_17.2.e257505.7","doi-asserted-by":"crossref","first-page":"300","DOI":"10.4274\/jcrpe.galenos.2021.2020.0192","article-title":"Long-term clinical follow-up of patients with familial hypomagnesaemia with secondary hypocalcaemia","volume":"13","author":"Bayramo\u011flu","year":"2021","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082710560938000_17.2.e257505.8","doi-asserted-by":"crossref","DOI":"10.1177\/2329048X16674834","article-title":"Seizures related to hypomagnesaemia: a case series and review of the literature","volume":"3","author":"Chen","year":"2016","journal-title":"Child Neurol Open"},{"key":"2025082710560938000_17.2.e257505.9","doi-asserted-by":"publisher","DOI":"10.1159\/000350886"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:56:16Z","timestamp":1756317376000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,26]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/bcr-2023-257505"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257505","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2]]}}}