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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
Suggested Reading
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.
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372:1263–71.
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.
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.
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.
Wanders RJ. Peroxisomes, lipid metabolism, and human disease. Cell Biochem Biophys. 2000;32(Spring):89–106.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Naga, O.I. (2020). Metabolic Disorders. In: Naga, O.I. (eds) Pediatric Board Study Guide. Springer, Cham. https://doi.org/10.1007/978-3-030-21267-4_5
Download citation
DOI: https://doi.org/10.1007/978-3-030-21267-4_5
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21266-7
Online ISBN: 978-3-030-21267-4
eBook Packages: MedicineMedicine (R0)