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Cystathionine β-synthase (CBS) deficiency is a rare inborn error of amino acid metabolism affecting energy supply at the cellular level. Neonatal screening allows early presymptomatic diagnosis and better outcome, by preventing the complications like thrombotic disease. Here we present a female newborn baby with immune hydrops fetalis and mosaic Turner syndrome who has incidentally been early diagnosed with CBS deficiency upon detection of increased methionine on serum amino acid chromatography. The patient was unresponsive to pridoxine treatment which was compatible with p.S349N mutation detected on both alleles of cystathionine β-synthase gene. We would like to stress
the point that CBS deficiency can be diagnosed by screening even in the setting of exchange transfusions and amino acid paper chromotography is a cheap and valuable metabolic screening tool in experienced hands. Since routine newborn screening for many metabolic diseases is currently not practiced in Turkey, all newborns born to families in which previous siblings had died due to unknown cause should be evaluated by amino acid paper chromotography and by other conventional metabolic tests when necessary.