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Phenylketonuria (PKU) is a genetic disorder which can lead to serious long-term complications in children, including intellectual impairment. The cerebral damage can be largely eliminated if hyperphenilalaninemia (HPA) and PKU is detected by newborn screening and the dietary treatment (started no later than 10 days after birth), brings within 15 days the blood Phe level in the ranges 2 6 mg/dL (or equivalently 120 360 μmol/L). Consequently, the measurement of plasma Phe level in children with PKU is of utmost importance. We present here in detail two methods for determination of plasma Phe concentrations in children with HPA (detected by newborn screening) or suspected to have PKU based on clinical symptoms. The first method, involving two-dimensional thin-layer chromatography (2D TLC) on micro scale chromatograms, allows the identification of patients with PKU. However, the quantitation of plasma Phe concentration by the 2D TLC video-densitometric method is only semiquantitative, because is accompanied a Institute of Life Sciences,”Vasile Goldiş” Western University, 91-93 Liviu Rebreanu Street, Arad, RO-310414, Romania. b Discipline of Cell and Molecular Biology, Faculty of Medicine, ”Vasile Goldiş” Western University, 94-96 Revoluției Boulevard, Arad, RO-310035, Romania. c Cluj County Clinical Emergency Hospital, Laboratory of Genetic Explorations, 6 Pasteur Street, Cluj-Napoca, RO-400349, Romania. d Department of Biochemistry, ”Iuliu Hațieganu” University of Medicine and Pharmacy, 6 Pasteur Street, Cluj-Napoca, RO-400349, Romania. e Cluj-Napoca Branch, Academy of Medical Sciences of Romania. f Cluj-Napoca Branch, Romanian Academy, 9 Republicii Street, Cluj-Napoca, RO-40015, Romania. g The Gheorghe Benga Foundation, Cluj-Napoca, Romania. * Corresponding author: gbgbenga@gmail.com C.-V. MIHALI, C. F. L. CIOLACU, L. FRENȚESCU, C.-M. PETRESCU, I. MÂNDRUȚIU, D. BECHET, T. NISTOR, A. ARDELEAN, G. BENGA 80 by large errors. In contrast, the high performance liquid chromatography determination of the plasma Phe level is fast, very sensitive and higly accurate. Both methods are rather cheap and reliable, suitable for use in countries that cannot afford more expensive procedures for diagnosis and monitoring of PKU.

studia universitatis babeş-bolyai. chemia

"Determination of plasma phenylalanine concentration by two dimensionalthin layer chromatography and high performance liquid chromatography in relation with diagnosis of phenylketonuria "