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Clinical Chemistry 0: clinchem.2004.036194v1, 2004; 10.1373/clinchem.2004.036194
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Received on April 28, 2004
Accepted on July 23, 2004

Endocrinology and Metabolism

Screening for Serum Total Homocysteine in Newborn Children

Helga Refsum 1*, Anne W. Grindflek 2, Per M. Ueland 3, Åse Fredriksen 3, Klaus Meyer 3, Arve Ulvik 3, Anne B. Guttormsen 4, Ole E. Iversen 5, Jørn Schneede 3, Bengt F. Kase 2

1 Department of Pharmacology, University of Oxford, Oxford, UK and Department of Pharmacology, University of Bergen, Bergen, Norway
2 Department of Pediatric Research, Rikshospitalet University Hospital, Oslo, Norway
3 Locus for Homocysteine and Related Vitamins, University of Bergen, Bergen, Norway
4 Department of Pharmacology, University of Bergen, Bergen, Norway
5 Department of Obstetrics and Gynecology, University of Bergen, Bergen, Norway

* To whom correspondence should be addressed. E-mail: helga.refsum{at}pharmacology.oxford.ac.uk.

Background: Newborn screening for total homocysteine (tHcy) in blood may identify babies with vitamin B12 (B12) deficiency or homocystinuria, but data on the causes of increased tHcy in screening samples are sparse.

Methods: Serum concentrations of tHcy, cystathionine, methionine, folate, and B12 and the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism were determined in 4992 capillary blood samples collected as part of the routine screening program in newborn children. Methylmalonic acid (MMA), gender (SRY genotyping), and six cystathionine {beta}-synthase (CBS) mutations were determined in 20-27% of the samples, including all samples with tHcy >15 µmol/L (n = 127), B12 <100 pmol/L (n = 159), or methionine >40 µmol/L (n = 154).

Results: The median (5th-95th percentile) tHcy concentration was 6.84 (4.20-12.83) µmol/L. B12 status, as determined by serum concentrations of B12, tHcy, and MMA, was moderately better in boys than in girls. tHcy concentrations between 10 and 20 µmol/L were often associated with low B12, whereas tHcy >20 µmol/L (n = 43) was nearly always detected in babies with increased methionine. tHcy did not differ according to folate concentrations or MTHFR 677C>T genotypes. None of the babies had certain CBS deficiencies, but heterozygosity led to low cystathionine, increased methionine, but normal tHcy concentrations.

Conclusion: Increased tHcy is a common but not specific finding in newborns. The metabolite and vitamin profiles will point to the cause of hyperhomocysteinemia. Screening for tHcy and related factors should be further evaluated in regions with high prevalence of homocystinuria and in babies at high risk of B12 deficiency.


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