Clinical presentation and outcome in primary familial hypomagnesaemia

Abstract

The clinical presentation and long term outcome (mean follow up eight years, range 0.25 to 21) of 15 patients with autosomal recessive primary familial hypomagnesaemia is described. The most common (67%) presenting events were generalised hypocalcaemic-hypomagnesaemic seizures at a mean (SD) age of 4.9 (2.5) weeks. Thirteen infants, treated soon after diagnosis with high dose enteral magnesium developed normally. Their serum calcium returned to normal concentrations but serum magnesium could not be maintained at normal concentrations (0.53 (0.12 SD) mmol/l; normal >0.62). Delay in establishing a diagnosis led to a convulsive disorder with permanent neurological impairment in two infants. Reported complications of prolonged hypomagnesaemia such as renal stones, hypertension, arrhythmias, sudden death, or dyslipidaemia were not observed. (Arch Dis Child 1998;78:127-130)

CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

“…This phenomenon is often observed in patients with hypomagnesemia with secondary hypocalcemia. In these patients, PTH is frequently very low despite hypocalcemia, 30 but the Mg levels in hypomagnesemia with secondary hypocalcemia are far below the levels in FHHNC.…”

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development

“…Mg 2ϩ deficiency results in small cell size and cell cycle arrest (11), as well as accelerated cell senescence (12), and intracellular Mg 2ϩ levels modulate the activity of many ion channels (13)(14)(15)(16)(17)(18). In whole animals, hypomagnesemia results in hypocalcemia (19,20), and Mg 2ϩ deficiency has been correlated to hypertension (21,22).…”

“…Mg 2ϩ deficiency results in small cell size and cell cycle arrest (11), as well as accelerated cell senescence (12), and intracellular Mg 2ϩ levels modulate the activity of many ion channels (13-18). In whole animals, hypomagnesemia results in hypocalcemia (19,20), and Mg 2ϩ deficiency has been correlated to hypertension (21,22 (42)(43)(44)46), has raised interest in putative Mg 2ϩ channels. TRPM6 mutations have been linked to the human genetic disease familial hypomagnesemia with secondary hypocalcemia (47,48).…”

Magnesium in the Central Nervous System

“…We also published similar data (Mousain--Bosc et al, 2004. However, it is not a true "Mg deficiency" with clinically associated respiratory repletion, as is observed in familial hypomagnesaemia with secondary hypocalcemia (Shalev et al, 1998;Mousain--Bosc et al, 2004). More precisely, it may be called "intracellular Mg deficiency" affecting mainly neural transmission, which is very sensitive to such ionic variations.…”

“…More recently, in a pilot study of a moderate dose, multivitamin/mineral supplement for children with autistic spectrum disorder, Adams and Holloway (2004) found significant improvements in sleep and gastrointestinal problems compared to the placebo group. Despite all these data, the intervention using Mg--B6 remains controversial and contradictory studies have been published (Vink, 2001;Helpern, 1993;Mousain--Bosc et al, 2006;Shalev et al, 1998). New data reporting a possible association between Mg--B6 supplementation, neurobehav--ioural symptoms, and Mg status of children have subsequently been published, opening a new way for research in this domain.…”