Emergency Diagnostic Procedures and Emergency Treatment
Metabolic emergencies need to be recognized early, and the initiation of appropriate treatment without any delay determines the overall outcome. A significant proportion of patients with inborn errors of metabolism are at risk of developing a metabolic emergency at some time of their life, particularly those children affected by an inborn error of metabolism that manifests as an acute intoxication. These patients usually present as a neonate – typically after an initial symptom-free interval of some days – in an emergency situation. Treatment needs to be initiated immediately even without having arrived at the exact diagnosis.
KeywordsPlasma Amino Acid Maple Syrup Urine Disease Maple Syrup Urine Disease Organic Aciduria Biotinidase Deficiency
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