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- Title
Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.
- Authors
Andi Dwi Bahagia Febriani, Rasit; Sakamoto, Akiko; Ono, Hiroaki; Sakura, Nobuo; Ueda, Kazuhiro; Yoshii, Chiyoko; Kubota, Miho; Yanagawa, Junko
- Abstract
Background: The most widely used method for newborn screening for homocystinuria (HCU) is a semiquantitative bacterial inhibition assay for measuring methionine concentration in dried blood spots (DBS). Because this method has resulted in a number of missed cases due to many factors, we developed a high performance liquid chromatography (HPLC) method with fluorescence detection to measure total homocysteine (tHcy) in DBS which might be useful for newborn screening for HCU. Methods: One disk of DBS 3 mm in diameter was sonicated in 10 min. The extract was reduced with dithioerythritol and was derivatized with 4-aminosulfonyl-7fluoro-2,1,3-benzoxadiazole before injection into HPLC. Results: This method showed good linearity ( r = 0.996), precision (coefficient of variation range 2.7−5%), and excellent correlation coefficient between DBS and serum tHcy, both in control ( r = 0.932) and patient samples ( r = 0.952). By this method, the mean tHcy concentration in DBS of preterm newborns, full-term newborns, and adults was 1.4 ± 1.0, 2.5 ± 1.6, and 4.9 ± 1.5 µmol/L, respectively. The mean tHcy DBS concentration in two cases of cystathionine-β-synthase deficiency and one case of 5,10-methylentetrahydrofolate reductase deficiency was 22.7 ± 2.88, 29.3 ± 1.90, and 41.3 µmol/L, respectively. Conclusions: The present method, which is rapid, user friendly and reliable, seems applicable to newborn screening of HCU in place of methionine measurement.
- Subjects
HOMOCYSTEINE; LIQUID chromatography; METHIONINE; METABOLIC disorders; SULFUR amino acids
- Publication
Pediatrics International, 2004, Vol 46, Issue 1, p5
- ISSN
1328-8067
- Publication type
Article
- DOI
10.1111/j.1442-200X.2004.01825.x