Hypomagnesemia 1, intestinal

Common Name(s)

Hypomagnesemia 1, intestinal

Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by {5:Knoers, 2009}). Genetic Heterogeneity of Hypomagnesemia A form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; {154020}) is caused by mutation in the FXYD2 gene ({601814}). Renal hypomagnesemia-3 (HOMG3; {248250}), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene ({603959}). Renal hypomagnesemia-4 (HOMG4; {611718}), which is normocalciuric, is caused by mutation in the EGF gene ({131530}). Renal hypomagnesemia-5 (HOMG5; {248190}), associated with hypercalciuria, nephrocalcinosis, and severe ocular involvement, is caused by mutation in the CLDN19 gene ({610036}). Renal hypomagnesemia-6 (HOMG6; {613882}) is caused by mutation in the CNNM2 gene ({607803}). Patients with Gitelman syndrome ({263800}) and Bartter syndrome (see {241200}) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see {226600}) and Whipple disease, that can result in severe hypomagnesemia.
 

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