Familial hypomagnesemia--a follow-up examination of three patients after 9 to 12 years of treatment

Pediatr Res. 1981 Aug;15(8):1134-9. doi: 10.1203/00006450-198108000-00012.


Three children with familial hypomagnesemia from infancy were treated perorally with magnesium for 9 to 12 years. Their somatic and intellectual development have since been normal. Without therapy, the serum magnesium fell from subnormal (about 0.5 mmoles/liter) to very low values (0.2 to 0.3 mmoles/liter) within 1 to 4 wk. We observed a secondary fall in serum calcium and potassium and an increase in sodium and phosphate although serum concentrations of PTH, calcitonin, and 25-OH-vitamin D in the blood remained normal. Balance studies confirmed the presence of a defect in the intestinal absorption of magnesium and excluded a defective renal tubular transport system. The subjects continued to require daily magnesium supplements to avoid serious symptoms. Optimal dosage was found to be in the range 0.5 to 0.75 mmoles/kg . day; doses above this caused diarrhoea and a fall in the serum and urine levels of magnesium. Pathophysiologic mechanisms involved in the electrolyte changes that occurred secondarily to the hypomagnesemia are discussed.

MeSH terms

  • Child, Preschool
  • Electrolytes / blood
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Magnesium / therapeutic use*
  • Magnesium Deficiency / blood
  • Magnesium Deficiency / drug therapy
  • Magnesium Deficiency / genetics*
  • Male


  • Electrolytes
  • Magnesium