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Clinical Chemistry 51: 235-237, 2005. First published October 28, 2004; 10.1373/clinchem.2004.040022
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(Clinical Chemistry. 2005;51:235-237.)
© 2005 American Association for Clinical Chemistry, Inc.

Technical Briefs

Diagnosis of Methylmalonic Acidemia from Dried Blood Spots by HPLC and Intramolecular-Excimer Fluorescence Derivatization

Osama Y. Al-Dirbashi1, Minnie Jacob1, Zuhair Al-Hassnan2, Fahad El-Badaoui1 and Mohamed S. Rashed1,2,a

Departments of1 Genetics and 2 Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

aaddress correspondence to this author at: Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; fax 966-1-442-4546, e-mail rashed@kfshrc.edu.sa

The first 20% of the full text of this article appears below.

Methylmalonic acidemias, a group of heterogeneous disorders, are characterized by accumulation of methylmalonic acid (MMA) and its byproducts in biological fluids (1)(2). Methylmalonic acidemia is now included in all tandem mass spectrometry (MS/MS)-based newborn screening programs (3)(4)(5). Detection is based on the finding of increased propionylcarnitine and/or increased propionylcarnitine-to-acetylcarnitine ratio in dried blood spots (DBS) by MS/MS. These markers, however, are not specific because they are increased in propionic acidemia and, possibly, in multiple carboxylase deficiency (3). In most programs, newborns or patients with initial positive results are recalled for a second blood spot, and a urine sample is collected for organic acid analysis to differentiate among the three disorders.

In the present study, we used the intramolecular-excimer fluorescence derivatization approach of Nohta and coworkers (6)(7) to form a fluorescent derivative of MMA. This would allow the detection of MMA in DBS samples from affected neonates, leading to a conclusive diagnosis with the remains of the DBS within a short time, often the same working day.

From a DBS, four 3.2-mm discs were punched and extracted into 250 µL of methanol containing 20 µmol/L malonic acid (MA) as internal calibrator by vortex-mixing for 30 s and standing at room temperature . . . [Full Text of this Article]






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