Inborn Errors of Metabolism Differential Diagnoses

  • Author: Debra L Weiner, MD, PhD; Chief Editor: Richard G Bachur, MD   more...
 
Updated: Mar 13, 2012
 
 

Differential Diagnoses

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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.

Specialty Editor Board

Garry Wilkes  MBBS, FACEM, Director of Emergency Medicine, Calvary Hospital, Canberra, ACT; Adjunct Associate Professor, Edith Cowan University; Clinical Associate Professor, Rural Clinical School, University of Western Australia

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Wayne Wolfram, MD, MPH  Associate Professor, Department of Emergency Medicine, Mercy St Vincent Medical Center

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.

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.

References

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Table 1. Clinical and Laboratory Findings of Inborn Errors of Metabolism
Clinical Findings* AA OA UCD CD GSD FAD LSD PD MD
Episodic decompensationX++++X+--X
Poor feeding, vomiting, failure to thriveX++++XX+++
Dysmorphic features and/or skeletal or organ malformationsXX--XX+XX
Abnormal hair and/or dermatitis-XX------
Cardiomegaly and/or arrhythmias-X--XX+-X
Hepatosplenomegaly and/or splenomegalyX++++++XX
Developmental delay +/- neuroregression+++XXX++++
Lethargy or comaX+++++X++--X
SeizuresXX+XXX++X
Hypotonia or hypertonia++++X+X+X
Ataxia-X+X-XX--
Abnormal odorX+X------
Laboratory Findings*
Primary metabolic acidosisX++++X+--X
Primary respiratory alkalosis--+------
HyperammonemiaX+++X-+--X
HypoglycemiaXX-+X+--X
Liver dysfunctionXXX+X+XXX
Reducing substancesX--+-----
KetonesAHAAL/ALAAH/A
*Within disease categories, not all diseases have all findings. For disorders with episodic decompensation, clinical and laboratory findings may be present only during acute crisis. For progressive disorders, findings may not be present early in the course of disease.



++ = Always present.



+ = Usually present.



X = Sometimes present.



- = Absent.



H = Inappropriately high.



L = Inappropriately low.



A = Appropriate.



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