The diagnosis and management of the acutely ill child with suspected metabolic disease can present a formidable challenge to even the most astute clinician. Metabolic disease may present in a fulminate fashion to the pediatric intensivist with profound biochemical disturbances, encephalopathy and even cardiac failure. The diagnosis of an inborn error of metabolism (IEM) may be delayed if a high index of suspicion is not maintained when an infant presents with critical illness. This chapter serves as a guide to the recognition of metabolic disease based on presenting signs, symptoms and screening laboratory tests. The rapid implementation of therapy for children with suspected or known metabolic disease will also be reviewed.
KeywordsGlycogen Storage Disease Mitochondrial Disorder Maple Syrup Urine Disease Glutaric Aciduria Type Biotinidase Deficiency
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