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Clinical Chemistry 47: 1364-1372, 2001;
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(Clinical Chemistry. 2001;47:1364-1372.)
© 2001 American Association for Clinical Chemistry, Inc.

Articles

Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study

Ulrich Glümer Jensen1a, Niels Jacob Brandt1,2, Ernst Christensen2, Flemming Skovby2, Bent Nørgaard-Pedersen1 and Henrik Simonsen1ab

1 Department of Clinical Biochemistry, Statens Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark.

2 Department of Clinical Genetics, University Hospital, 9 Blegdamsvej, DK-2100 Copenhagen OE, Denmark.

aThese authors contributed equally to the work.b Author for correspondence. Fax 45-32683878; e-mail hss{at}ssi.dk.

Background: Classic galactosemia (OMIM 230400) is an inherited disorder in the metabolism of galactose caused by deficiency of the enzyme galactose 1-phosphate uridyl transferase (EC 2.7.7.12). Galactosemia leads to accumulation of galactose and galactose 1-phosphate (gal-1-P) in blood and tissues and, if untreated, produces neonatal death or severe mental retardation, cirrhosis of the liver, and cataracts. Hence, the disorder is included in many neonatal screening programs.

Methods: We retrospectively analyzed filter-paper blood samples obtained 4–8 days postpartum for routine neonatal screening from 12 galactosemia patients and 2055 random controls. Total hexose monophosphates (HMPs) were used as a marker of gal-1-P and were assayed by negative-ion mode electrospray tandem mass spectrometry (tandem MS) with settings biased toward gal-1-P detection. The predominant precursor/product ion pair m/z 259/79 was used to quantify total HMPs by external standardization.

Results: Linear calibration curves were obtained in the range 0–8 mmol/L gal-1-P. The detection limit was 0.1 mmol/L HMP, and total CVs ranged from 13% at the detection limit to <8% at >1 mmol/L HMP. The method was in agreement with an alkaline phosphatase-galactose dehydrogenase method. All samples from galactosemia patients contained increased HMP concentrations (range for patients, 2.6–5.2 mmol/L; range for reference group, <0.10–0.94 mmol/L). The diagnostic sensitivity and specificity were 100% at a cutoff of 1.2 mmol/L HMP. A Duarte/classic galactosemia compound heterozygous sample could be discriminated clearly from both patient and reference samples.

Conclusion: Quantitative analysis of HMPs by tandem MS can be used in laboratory investigations of galactosemia.




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