- 771 Downloads
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.
KeywordsOrganic 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
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.
- 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
- 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