Ретроспективная диагностика наследственных болезней обмена методом тандемной масс-спектрометрии

Blood spots from the archive original newborn screening cards of babies who died on the first year of life (n=86) were retrospectively studied by tandem mass spectrometry (MS/MS). It were revealed aminoacids and acylcarnitine profiles alterations in 4 cases (4,7 %). In one of them aminoacides profiles with significant elevation of leucine, isoleucine and valine was consistent with maple syrup urine disease. Clinical picture and the detection of heterozygous deletion с.98delG in exone 1 of BCKDHB gene indirectly confirmed the diagnosis of leucinose. In other 3 cases the profiles of aminoacids and acylcarnitinewere not carried specific character. The additional clinical and laboratory findingswere necessary for diagnosis of inborn metabolic diseasesin this cases. The importance of MS/MS introduction in neonatal screening programs was confirmed.