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Methylmalonic acid values in healthy Dutch children
Marije Hogeveen1, Ingrid van Beynum, Arno van Rooij
1Dept. of Paediatrics, Metabolic and Endocrine Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. m.hogeveen@cukz.umcn.nl
Background:
Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage.
Aim Of The Study:
To analyse plasma MMA concentrations in Dutch children and to evaluate possible factors influencing its concentration.
Methods:
A number of 186 Dutch children aged 0-19 years were analysed cross-sectionally. Blood was collected to measure MMA, total homocysteine (tHcy), cobalamin (Cbl) and serum creatinine concentrations. In addition, information about medical history, age and sex was recorded.
Results:
The geometric mean (GM) plasma MMA concentration was 0.17 micromol/l (95% CI 0.07-0.42) and the GM tHcy was 6.6 micromol/l (95% CI 3.1-13.9). There is a slight positive correlation between plasma MMA and age in children >1 year (r = 0.211, P < 0.05). Plasma MMA concentrations were significantly higher in children with low Cbl concentrations. No significant difference in MMA, Cbl, tHcy or creatinine concentrations between sexes could be observed. Regression analysis showed that Cbl was the strongest determinant of plasma MMA (regression coefficient -0.414, P < 0.05). The association between MMA and Cbl is stronger at increasing age (P for trend 0.045).
Conclusions:
Plasma Cbl is the main determinant of MMA in this group of Dutch children. The strength of the association increased with increasing age.
Insights
Plasma methylmalonic acid (MMA) levels in Dutch children are primarily determined by cobalamin (Cbl) levels. This association strengthens with age, highlighting Cbl
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.
