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.
- Glycogen Storage Disease
- Mitochondrial Disorder
- Maple Syrup Urine Disease
- Glutaric Aciduria Type
- Biotinidase Deficiency
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, access via your institution.
Tax calculation will be finalised at checkout
Purchases are for personal use onlyLearn about institutional subscriptions
Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362–72.
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.
Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (Glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. J Pediatr. 2002;140:781–3.
Beale EG, Hammer RE, Antoine B, Forest C. Glyceroneogenesis comes of age. FASEB J. 2002;16:1695–6.
Bodamer O. Organic acidemias. In: Rose BD, editor. UpToDate. Waltham: UpToDate; 2006.
Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:1–9.
Chitkara DK, Nurko S, Shoffner JM, Buie T, Flores A. Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children. Am J Gastroenterol. 2003;98:871–7.
Chuang DT. Maple syrup urine disease: it has come a long way. J Pediatr. 1998;132:S17–23.
Craigen WJ, Darras BT. Overview of disorders of glycogen metabolism. In: Rose BD, editor. UpToDate. Waltham: UpToDate; 2006.
Crone J, Möslinger D, Bodamer OA, et al. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinemia type I. Acta Paediatr. 2003;92:625–8.
Foster JD, Nordlie RC. The biochemistry and molecular biology of the glucose-6-phosphat system. Exp Biol Med. 2002;227:601–8.
Freeze HH. Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med. 2007;7:389–96.
Garcia-Cazorla A, Rabier D, Touati G, et al. Pyrivate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol. 2006;59:121–7.
Gordon N. Classic diseases revisited: carbohydrate-deficient glycoprotein syndromes. Postgrad Med J. 2000;76:145–9.
Hartley LM, Khwaja OS, Verity CM. Glutaric aciduria type I and nonaccidental head injury. Pediatrics. 2001;107:174–6.
Hoffman GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek E. Inhereted metabolic diseases. Philadelphia: Lippincott Williams and Wilkins; 2002.
Kelly A, Stanley CA. Disorders of glutamate metabolism. Ment Retard Dev Disabil Res Rev. 2001;7:287–95.
Mancuso M, Massimiliano F, Tsujino S, et al. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol. 2003;60:1445–7.
Mochel F, DeLonlay P, Touati G, et al. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab. 2005;84:305–12.
Morris AAM, Leonard JV. Early recognition of metabolic decompensation. Arch Dis Child. 1997;76:555–6.
Niezen-Koning KE, Wanders RJ, Ruiter JP, et al. Succinyl-CoA: acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr. 1997;156:870–3.
Roe CR, Sweetman L, Roe DS, David F, Brunengraber H. Treatment of cardiomyopathy and rhabdomyolisis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest. 2002;110:259–69.
Rutledge SL, Atchison J, Boshard NU, Steinmann B. Case report: liver glycogen synthase deficiency – a cause for ketotis hypoglycemia. Pediatrics. 2001;108:495–7.
Saudubray JM, Specola JM, Middleton N, et al. Hyperketotic states due to inherited defects of ketolysis. Enzyme. 1987;38:80–90.
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001.
Strauss KA. Glutaric aciduria type I: a clinicians view of progress. Brain. 2005;128:697–9.
van den Berghe G. Disorders of gluconeogenesis. J Inherit Metab Dis. 1996;19:470–7.
Vockley J, Whiteman DAH. Defects of mitochondrial β-oxidation: a growing group of disorders. Neuromuscul Dis. 2002;12:235–46.
Winter SC, Buist NRM. Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine. Am Heart J. 2000;139:S63–9.
Zeviani M, Di Donato S. Mitochondrial disorders. Brain. 2004;127:2153–72.
Zschocke J, Elfriede Q, Guldberg P, Hoffman GF. Mutation analysis in glutaric aciduria type I. J Med Genet. 2000;37:177–81.
Editors and Affiliations
© 2012 Springer-Verlag London Limited
About this chapter
Cite this chapter
Bellino, P.J. (2012). Metabolic Crises. In: Lucking, S., Maffei, F., Tamburro, R., Thomas, N. (eds) Pediatric Critical Care Study Guide. Springer, London. https://doi.org/10.1007/978-0-85729-923-9_40
Publisher Name: Springer, London
Print ISBN: 978-0-85729-922-2
Online ISBN: 978-0-85729-923-9