Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
Abstract
Mitochondrial disorders may manifest at any age. High energetic demands associated with postnatal adaptation to extrauterinne life result in frequent onset of mitochondrial disorders in nenates.
The aim of this study is to analyse clinical and laboratoř characteristics of mitochondrial disorders with neonatal onset. Further, we would like to propose algorithms for diagnostics of neonatal mitochondrial disorders.
Study group:Mitochondrial disordermanifested in 75 neonates,who comprise 21% of mitochondrial desease patients diagnosed on biochemical and/or molecular genetic level at our department. According our results the diagnostic algorithm for a critically ill newborn with suspicion of mitochondrial energetic metabolism defect was prepared.
This algorithm also enables to indicate direct enzymatic or mutation analysis, either with no need of muscle biopsy in some cases.