Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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]

Symptoms

Hypomagnesaemia
Hypomagnesemia 4 is characterized by normocalcemia and a normal range renal magnesium excretion in hypomagnesemia.

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

References:

1.

Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

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Update: April 29, 2019