hrp0095p1-430 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Importance of early detection of familial hypomagnesemia in preventing neurological handicap

Marzouk Asma , Tej Amel , Dworniczak Bernd , Donaldson Malcolm

Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a are autosomal recessive disorder which presents in early infancy with generalized convulsions, or other symptoms related to increased neuromuscular excitability. Several mutations in the TRPM6 gene have been described. Early diagnosis is an effective means of preventing the inevitable neurocognitive sequelae which occur in the absence of appropriate treatment.<s...