Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

Abstract

HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in TRPM6 gene.

Keywords

hypomagnesemia - hypocalcemia - hypoparathyroidism - TRPM6

Authors' Contributions

G.J., S.R., R.M., and A.D. managed the patient and drafted the manuscript. N.M.P., G.A., U.S., and G.D. edited the manuscript and performed computational analysis.

Publication History

Received: 28 December 2020

Accepted: 02 July 2021

Article published online:
31 August 2021

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