hypomagnesemia type 1

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hypomagnesemia type 1; hypomagnesemia with secondary hypocalcemia (HSH)

Hereditary defect in Mg⁺² absorption Pathology: 1) defect in Mg⁺² absorption resulting in hypomagnesemia 2) hypocalcemia secondary to parathyroid failure resulting from Mg⁺² deficiency 3) calcinosis Genetics: 1) autosomal recessive disease 2) mutations in the TRPM6 gene Clinical manifestations: 1) neurologic symptoms of hypomagnesemic & hypocalcemia - seizures & muscle spasms, during infancy Laboratory: 1) serum Mg⁺² low 2) ²4 hour urine Mg⁺² 3) serum Ca⁺² low Complications: 1) untreated, the disorder may be fatal or may result in neurological damage Management: 1) restoring concentrations of serum Mg⁺² to normal values by high-dose Mg⁺² supplementation can overcome defect in Mg⁺² absorption & in serum Ca⁺².

transient receptor potential cation channel subfamily M member 6; channel kinase 2; melastatin-related TRP cation channel 6 (TRPM6, CHAK2)

General

familial hypomagnesemia

Database Correlations

OMIM 602014

References

UniProt :accession Q9BX84
OMIM :accession 602014

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