Metabolic Disorders

2014 Clinical Chemistry and Laboratory Medicine  
BACKGROUND: Despite the current war in Syria and its major implications on medical situation two studies were undertaken on inborn error of metabolism for common disorders like congenital hypothyroidism, Galactosemia and 17-OH Progesterone using DELFIA neonatal PerkinElmer kits, and less common disorders like amino acids, fatty acid and organic acids disorders using the tandem mass spectrometry. METHODS: The first study limited pilot study of neonatal screening program which are not established
more » ... at the national level in Syria. Screening for the above disorders was carried out for newborns delivered at the Damascus university maternity hospital over a period of 5 months. The second study for the above mentioned disorders using same methods and laboratory to detect clinically suspected disorders was carried out for newborns admitted at the Damascus university children hospital over one year period. RESULTS: The first study done on 1160 newborns; there were 1 propionic acidemia, 1tyrosinemia, 1 MCAD, and 1 CAH, no Galactosemia nor congenital hypothyroidism. The second clinically guided study done on 258 suspected cases; there were 10 cases of methylmalonic acidemia, 5 propionic acidemia, 1 HMG, 4 MSUD, 2 Tyrosinemia, 2 PKU, 2 Citrullinemia, 2 homocystinemia and 1 VLCFA. CONCLUSIONS: The incidence of these disorders found in this Syrian sub-population warrants consideration of a comprehensive nationwide neonatal screening program.
doi:10.1515/cclm-2014-4043 fatcat:nrq7uxet5vc5vdtpy2papli4ca