Hypomagnesemia with normocalciuria
Isolated recessive hypomagnesemia is an autosomal recessive disorder characterized by normocalcemia and mental retardation. The underlying mutation affects pro-EGF sorting and prevents the hormone's effect on TRPM6 the magnesium channel in the dital convoluted tubule and probably in the intestine.
This disorder has recently (2007) detected by Groenestege. By investigating this disorder, the first hormone affecting magnesium homeostasis has been detected.[Error: Macro 'ref' doesn't exist]
A single family has been described yet.[Error: Macro 'ref' doesn't exist]
Hypomagnesemia 4 is characterized by normocalcemia and a normal range renal magnesium excretion in hypomagnesemia.
Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.[^]