Evidence · Research paper
Diagnostics of Inherited Metabolic Diseases in Newborns with the Hyperammonemia Syndrome at the Onset of Disease (Pilot Study).
- Inborn errors of metabolism
- Medical
- Metabolic, endocrine and renal
Summary
Single-centre Russian pilot study of 20 newborns with hyperammonaemia, comparing those with confirmed inherited metabolic disease (by tandem mass spectrometry and genome sequencing) against those with transient neonatal hyperammonaemia. It describes common presenting features such as CNS depression, seizures and vomiting, and finds higher ammonia levels in inherited metabolic disease. A discriminant model combining ammonia, glucose, base deficit, lactate, haematological indices and pH is proposed to predict the risk of inherited metabolic disease at onset. The small sample and pilot design limit generalisability.
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- Licence:
- Open (Creative Commons)
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