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year 15, Issue 61 (12-2023) |
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Comparing the performance of phenylalanine assay methods used for the monitoring of phenylketonuria
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Parvaneh Moghimi1   , Rita Arabsolghar2 , Mohammad Ali Takhshid2 |
1- Kashan University, Kashan, Iran
2- Shiraz University of Medical Sciences, Shiraz, Iran |
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Abstract: (947 Views) |
Phenylketonuria is an autosomal recessive disease that is caused by defects in the activity of phenylalanine hydroxylase. It is associated with increased circulating level of phenylalanine which can lead to mental retardation. In order to prevent adverse neurological consequences, a therapeutic range based on plasma concentration of phenylalanine (120 to 360 μmol/L for patients aged 0 to 12 years and 120 to 600 μmol/L for patients older than 12 years) has been recommended. Dried blood spot (DBS) specimens are commonly used in newborn screening tests. However, several pre-analytical and analytical factors can affect phenylalanine concentration in DBS samples and consequently on dietary management and patient outcomes. The aim of this review article was to provide an overview on the problems related to the measurement of phenylalanine in DBS specimens to ensure that metabolic control is accurately monitored using the target treatment ranges.
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| Keywords: Phenylketonuria, Phenylalanine, Plasma specimen, Dried blood spot, Quality control |
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Full-Text [PDF 654 kb]
(734 Downloads)
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Type of Study: Review |
Subject:
بیوشیمی
Received: 2023/12/23 | Accepted: 2023/12/23 | Published: 2023/12/23
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