A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.

ABSTRACT: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the TRPM6 gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage. Loss-of-function mutations of TRPM6 are a

SUBMITTER: Lomelino-Pinheiro S 

PROVIDER: S-EPMC7219130 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature