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Pediatric Genetic/Metabolic Disorders
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Introduction
The field of medical genetics encompasses all conditions with a basis in DNA. Approximately 10,000 genetic disorders have been identified, affecting every organ system, and likely many more have yet to be characterized. You are likely to encounter children with genetic conditions while rotating in any pediatric clinic or on any inpatient floor. While rotating on a genetics service, you will participate in the diagnosis, management, and counseling of patients and families affected by genetic conditions. Some of these conditions will be metabolic genetic disorders (also known as biochemical disorders or inborn errors of metabolism).
This rotation guide covers the following topics:
- When to Obtain a Genetics or Metabolism Consultation
- Genetics-Focused History and Physical
- Family Medical History and Pedigree
- Common Genetic Syndromes
- Genetic Variants and Testing
- Metabolic Disorders or Inborn Errors of Metabolism
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Newborn Screening
Other topics related to pediatric genetic/metabolic disorders are covered in the following rotation guides:
- Weakness (Pediatric Neurology)
- Pulmonary Manifestations of Genetic Conditions & Congenital Lung Malformations (Pediatric Pulmonology)
This rotation guide was developed by a collaborative team of contributors including:
Writer: Philip Boone, MD, PhD; Jacklyn Omorodion, MD
Peer Reviewers: Monica Wojcik, MD; Nina Gold, MD; William Brucker, MD, PhD
Section Editor: Amy Roberts, MD
Senior Editor: Julie Ingelfinger, MD
Last updated: December 2020 by Jacklyn Omorodion, MD
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Amy Roberts, MD
Amy Roberts, MD, is a medical geneticist in the Cardiovascular Genetics Clinic at Boston Children’s Hospital, where she is also Co-director of the Combined Pediatrics and Genetics Residency Training Program and Director of the Cardiovascular Genetics Research Program. She is Assistant Professor of Pediatrics at Harvard Medical School.
