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.

Historical Aspects

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]

Epidemiology

A single family has been described yet.[Error: Macro 'ref' doesn't exist]

Systematic

Hypomagnesemia
	EGFR
	Gitelman syndrome
	Hereditary myokymia type 1
	Hypomagnesemia with hypercalciuria and nephrocalcinosis
	Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
	Hypomagnesemia with normocalciuria
		EGF
	Intestinal hypomagnesemia with secondary hypocalcemia
	Isolated dominant hypomagnesemia
	Renal cysts and diabetes (RCAD)
	Renal hypomagnesemia 6
	TRPM7