Methylmalonic acid values in healthy Dutch children

Area of Science:

• Biochemistry
• Pediatric Nutrition
• Clinical Chemistry

Background:

• Plasma methylmalonic acid (MMA) is a specific biomarker for functional cobalamin (Cbl) deficiency.
• Cobalamin deficiency in children can lead to severe, non-specific symptoms including developmental delay, seizures, and failure to thrive, potentially causing irreversible neurological damage.

Purpose of the Study:

• To analyze plasma MMA concentrations in a cohort of Dutch children.
• To identify and evaluate factors influencing plasma MMA concentrations in pediatric populations.

Main Methods:

• Cross-sectional analysis of 186 Dutch children aged 0-19 years.
• Measurement of plasma MMA, total homocysteine (tHcy), cobalamin (Cbl), and serum creatinine.
• Collection of data on medical history, age, and sex.

Main Results:

• The geometric mean plasma MMA concentration was 0.17 micromol/l.
• Plasma MMA concentrations were significantly higher in children with low cobalamin levels.
• Cobalamin (Cbl) was identified as the strongest determinant of plasma MMA, with the association strengthening with increasing age.

Conclusions:

• Plasma cobalamin (Cbl) is the primary determinant of plasma MMA in Dutch children.
• The relationship between MMA and Cbl becomes more pronounced as children age.