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.
KeywordsKetone Cardiomyopathy Creatine Triglyceride Oligosaccharide
- Arid M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109:357–62.Google Scholar
- Bodamer O. Organic acidemias. In: Rose BD, editor. UpToDate. Waltham: UpToDate; 2006.Google Scholar
- Craigen WJ, Darras BT. Overview of disorders of glycogen metabolism. In: Rose BD, editor. UpToDate. Waltham: UpToDate; 2006.Google Scholar
- Foster JD, Nordlie RC. The biochemistry and molecular biology of the glucose-6-phosphat system. Exp Biol Med. 2002;227:601–8.Google Scholar
- Hoffman GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek E. Inhereted metabolic diseases. Philadelphia: Lippincott Williams and Wilkins; 2002.Google Scholar
- Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001.Google Scholar