Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.

Abstract

BACKGROUND:

Methionine (Met) in blood and urine is a useful diagnostic marker for homocystinuria (HCU). However, galactosemia could be misdiagnosed as HCU when Met is used as the sole marker, since elevated excretion of Met presents in both galactosemia and HCU. Use of a more specific diagnostic marker in addition to Met is therefore necessary for reduction of false positive results for HCU as well as confirmative diagnosis of HCU.

METHODS:

Chromatographic separation was performed using an anion-exchange column. The levels of Met and galactose (Gal) on blood were measured and Met/Gal ratios were calculated from blood spot samples from 300 normal volunteers, eight galactosemia patients, and three HCU patients.

RESULTS:

The Met/Gal ratio ranged 0-4.95 for normal blood spots (n=300), 0-0.22 for galactosemia samples (n=8), and >1250 for HCU patient samples.

CONCLUSIONS:

Separation, extraction, and deproteinization procedures were established for Met and Gal in blood spots. And Met/Gal ratio allowed HCU to clearly distinguish from galactosemia. As a way of second tier confirmative analysis, the ratio is the best way to reduce false positives. The assay is most appropriate to reduce false positives in labs that do not screen for galactosemia.

• Authors: Ji-Ye Lee, Hee-Jung Sim, Ha-Jeong Kwon, Yong-Moon Lee, Hye-Ran Yoon, Seon-Pyo Hong
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 413 Issue 1-2 Pg. 182-6 (Jan 18 2012) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 21951896 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 Elsevier B.V. All rights reserved.

Chemical References

• Anion Exchange Resins
• Methionine
• Galactose

Topics

• Anion Exchange Resins
• Chromatography, High Pressure Liquid (methods)
• Chromatography, Ion Exchange (methods)
• Electrochemistry (methods)
• False Positive Reactions
• Galactose (blood)
• Galactosemias (blood, diagnosis)
• Homocystinuria (blood, diagnosis)
• Humans
• Infant, Newborn
• Methionine (blood)
• Neonatal Screening
• Reproducibility of Results