Treatment difficulties in hypomagnesemia secondary to the transient receptor potential melastatin 6 gene: A case report with novel mutation

Yücel H., Sel Ç. G., Kasapkara Ç. S., Küçükali G. K., Savas-Erdeve S., Öztoprak Ü., ...More

JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.13, no.1, pp.114-118, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.4274/jcrpe.galenos.2020.2020.0004
  • Journal Name: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.114-118
  • Keywords: Hypocalcemia, hypomagnesemia, TRPM6, transient receptor potential melastatin 6
  • Ankara Yıldırım Beyazıt University Affiliated: Yes


© 2021 by Turkish Pediatric Endocrinology and Diabetes Society.Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.