Hypomagnesemia with secondary hypocalcemia

Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder that affects the absorption of magnesium in the intestines. It is characterized by reduced reabsorption of magnesium from our diet in the intestines, leading to decreased levels of magnesium in the bloodstream. This, in turn, causes a decrease in the production of parathyroid hormone (PTH) by the parathyroid gland. Consequently, there is a decrease in both PTH and serum calcium levels, resulting in secondary hypocalcemia.

One of the main symptoms of HSH is the occurrence of convulsions and spasms in early infancy. If left untreated, these symptoms can potentially lead to intellectual disability or even death. HSH is primarily caused by mutations in the TRPM6 gene, which plays a crucial role in maintaining the balance of magnesium in the body.