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Metabolic Disorders

  • Osama I. NagaEmail author
Chapter

Abstract

Inborn errors of metabolism are infrequent, but they are life-threatening. Early detection and awareness of symptoms within the very first few hours of clinical presentation may save the life of a child. For any child with unexplained vomiting, change in mental status, seizures, developmental delay, or loss of milestones, genetic and metabolic disorders must be in the differential diagnosis. All pediatricians must be familiar with the results of the newborn screening, which must be reported to them promptly, and must know the best next step for any abnormal result.

Keywords

Organic acidemias Disorders of amino acid metabolism Urea cycle defects Disorders of fatty acid oxidation and mitochondrial metabolism Disorders of carbohydrate metabolism Lysosomal storage disorders Disorders of peroxisomal function Disorders of porphyrin metabolism Disorders of purine or pyrimidine metabolism 

Notes

Acknowledgment

I gratefully acknowledge the review and suggestions of Golder N. Wilson, MD, PhD, Clinical Professor of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas.

Suggested Reading

  1. Berry GT, Segal S, Gitzelmann R. Disorders of galactose metabolism. In: Fernandes J, Saudubray M, van den Berghe G, Walter JH, editors. Inborn metabolic diseases—diagnosis and treatment. 4th ed. New York: Springer; 2006.Google Scholar
  2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372:1263–71.CrossRefGoogle Scholar
  3. Kim HJ, Park SJ, Park KI, Lee JS, Eun HS, Kim JH, et al. Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency. Korean J Pediatr. 2011;54:425–8.CrossRefGoogle Scholar
  4. Rezvani I, Rezvani G. Approach to inborn errors of metabolism. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, editors. Nelson textbook of pediatrics. 19th ed. Philadelphia: Saunders Elsevier; 2011. p. 416–48.CrossRefGoogle Scholar
  5. Rezvani I, Yukoff M. Urea cycle and hyperammonemia. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, editors. Nelson textbook of pediatrics. 19th ed. Philadelphia: Saunders Elsevier; 2011. p. 447–53.Google Scholar
  6. Wanders RJ. Peroxisomes, lipid metabolism, and human disease. Cell Biochem Biophys. 2000;32(Spring):89–106.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Pediatrics, Paul L. Foster School of Medicine, Texas Tech University Health Sciences CenterEl PasoUSA

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