The Turkish Journal of Pediatrics
2012 , Vol 54 , Num 4
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs
Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine,
Ankara, Turkey. E-mail: unalozlem@gmail.com
In many countries, neonatal screening programs have been unable to expand
and have been limited to a few diseases. We highlight herein the opportunity
available for the early detection of some inborn errors of metabolism (IEMs)
in those countries in which newborn screening programs are limited. All the
newborns that are referred to us for hyperphenylalaninemia are examined
physically and their blood samples are checked by both high-performance
liquid chromatography (HPLC) for blood phenylalanine levels and by amino
acid analyzer for the measurement of blood amino acid concentrations. Seven
patients who had been referred to our unit for hyperphenylalaninemia were
eventually diagnosed with another IEM. A careful physical examination of the
babies sent for positive screening test result combined with the utilization of
low expense screening techniques at the experienced referring centers might
facilitate otherwise missed opportunities for the early detection of some IEMs.
Keywords :
galactosemia, hyperphenylalaninemia, newborn screening, thin layer
chromatography, tyrosinemia type I, missed opportunities.