Importance of early diagnostics of inherited metabolic disorders in neonatal age

Abstract

Case reports of three children with manifestation of IMD in neonatal age and late diagnosis are presented. On contrary, assessment of early diagnosis saved favourable prognosis of the child with galactosemia and enabled the early introduction of adequate therapy in a child with alpha-1-antitrypsin deficit.

Early assessment of diagnosis of potentially treatable IMD plays an enourmous role in further prognosis of the child.

Keywords

• Importance early diagnostics inherited metabolic disorders
• neonatal age