Primary hypomagnesemia. I. Absorption Studies

Area of Science:

• Biochemistry
• Pediatrics
• Genetics

Background:

• Primary hypomagnesemia is a rare disorder affecting magnesium balance.
• Understanding its clinical course and genetic basis is crucial for effective management.

Purpose of the Study:

• To report the clinical course of two patients with primary hypomagnesemia.
• To investigate magnesium metabolism in a pediatric patient.
• To evaluate treatment efficacy.

Main Methods:

• Case study of two patients with primary hypomagnesemia.
• Detailed measurements of magnesium retention, intestinal absorption, fecal excretion, and renal clearance using 28-Mg.
• Genetic analysis of familial magnesium retention values.
• Clinical observation during treatment with trimagnesium dicitrate.

Main Results:

• One male infant showed markedly reduced magnesium retention (2.8%) and absorption (7.8%) compared to controls (25% and 28%, respectively).
• Parental and relative magnesium retention values were within the normal range for healthy adults.
• The infant patient was successfully treated with trimagnesium dicitrate, receiving 1.75 g of magnesium daily.

Conclusions:

• Primary hypomagnesemia can present with severe defects in intestinal magnesium absorption and retention in infants.
• The condition appears to have a genetic component, as evidenced by normal parental values.
• Trimagnesium dicitrate is an effective treatment for primary hypomagnesemia in pediatric patients.