Technique Improves Diagnosis of Metabolic and Nutritional Disorders

A new diagnostic testing technique will help physicians diagnose genetic metabolic disorders, such as phenylketonuria (PKU) and homocystinuria.

Genetic metabolic disorders can impair a child's mental and physical development. The new technique measures amino acids in blood plasma, urine, or cerebral spinal fluid by employing a combination of liquid chromatography (LC) and mass spectrometry (MS).

Developed by Quest Diagnostics Inc. (Lyndhurst, NJ, USA), the technique can measure and report up to 47 individual amino acids, depending on the medical condition to be tested and type of specimen. The new method also overcomes the problem of interference from medications and diet, which, when using conventional testing methods, often hinders accurate analysis. In addition, the new methodology can detect amino acid levels as low as 1µM/l. Physicians will be able to use amino acid quantitation tests on individuals whose ability to process nutrients is impaired, such as those undergoing chemotherapy treatments for cancer, the elderly, and patients suffering from gastrointestinal illnesses.

The company recently began to market the technique to hospital physicians who work in pediatrics, neonatology, genetics, oncology and gastroenterology. Quest Diagnostics has established normal ranges by age and sample type, enabling clinicians to evaluate individuals at all ages for a range of nutritional deficiencies and inborn errors of metabolism.

"We believe this new testing technique will improve nutritional monitoring and enhance the detection of several inherited metabolic disorders that can impair a child's mental and physical development,” said Joyce Schwartz, M.D., vice president and chief laboratory officer. "We also expect improved turnaround times to enhance diagnosis and treatment.”


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