Pediatrics, Inborn Errors of Metabolism: Multimedia

References

1. Newborn Screening Status Report. Updated March 11, 2009. National Newborn Screening and Genetics Resource Center. Available at http://genes-r-us.uthscsa.edu/nbsdisorders.pdf.

2. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. Apr 1 2008;77(7):987-94. [Medline]. [Full Text].

3. ACGME Newborn Screening Work Group: Levy HL, Watson, MS, Metabolic Disorders: Berry G, Goodman S, Marsden D, et al. Newborn Screening Act Sheet and Confirmatory Algorithms. Newborn Screening ACT Sheets and Confirmatory Algorithms. Available at http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm. Accessed 1/30/09.

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5. Acute Illness Protocols. New England Consortium of Metabolic Programs at Children's Hospital Boston. Available at http://www.childrenshospital.org/newenglandconsortium/NBS/Emergency_Protocols.html. Accessed 1/30/09.

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Further Reading

Keywords

inborn errors of metabolism, metabolic disease, IEM, disorders of protein metabolism, disorders of carbohydrate metabolism, lysosomal storage disorders, fatty acid oxidation defects, amino acidopathy, organic acidopathy, urea cycle defects, mitochondrial disorders, peroxisomal disorders, disorders of energy production, multiple sclerosis, MS, migraines, stroke, metabolic disorders, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, homocystinuria, sickle cell disease, cystic fibrosis, hyperammonemia, newborn screen

Contributor Information and Disclosures

Author

Debra L Weiner, MD, PhD, Attending Physician, Division of Emergency Medicine, Children's Hospital, Boston; Assistant Professor, Department of Pediatrics, Harvard Medical School
Disclosure: Nothing to disclose.

Medical Editor

Garry Wilkes, MBBS, FACEM, Director of Emergency Medicine, Bunbury Health Service, Western Australia Country Health Service; Adjunct Associate Professor, School of Exercise, Biomedical and Health Sciences, Faculty of Computing, Health and Science, Edith Cowan University; Medical Director, St John Ambulance Service
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Wayne Wolfram, MD, MPH, Clinical Associate Professor, Departments of Pediatrics, Children's Hospital and University of Cincinnati
Wayne Wolfram, MD, MPH is a member of the following medical societies: American Academy of Emergency Medicine, American Academy of Pediatrics, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

CME Editor

John D Halamka, MD, MS, Associate Professor of Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center; Chief Information Officer, CareGroup Healthcare System and Harvard Medical School; Attending Physician, Division of Emergency Medicine, Beth Israel Deaconess Medical Center
John D Halamka, MD, MS is a member of the following medical societies: American College of Emergency Physicians, American Medical Informatics Association, Phi Beta Kappa, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Chief Editor

Richard G Bachur, MD, Associate Professor of Pediatrics, Harvard Medical School; Associate Chief and Fellowship Director, Attending Physician, Division of Emergency Medicine, Children's Hospital of Boston
Richard G Bachur, MD is a member of the following medical societies: American Academy of Pediatrics, Society for Academic Emergency Medicine, and Society for Pediatric Research
Disclosure: Nothing to disclose.