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Pediatrics, Inborn Errors of Metabolism: Follow-up

Author: Debra L Weiner, MD, PhD, Attending Physician, Division of Emergency Medicine, Children's Hospital, Boston; Assistant Professor, Department of Pediatrics, Harvard Medical School
Contributor Information and Disclosures

Updated: Mar 30, 2009

Follow-up

Further Inpatient Care

  • Once toxic metabolites have been normalized, protein can be reintroduced using an essential amino acid solution, initially at 0.5-0.75 g/kg/d and gradually increased.
    • For amino and organic acidopathies and urea cycle defects, protein intake should be restricted to 40-50% of recommended daily allowance (RDA).
      • Lipids, 2-3 g/kg/d as 20% intralipid, can be given to increase caloric intake, but they are contraindicated for certain fatty acid oxidation defects.
      • For patients able to tolerate enteral feeding, protein-restricted preparations (eg, Meade Johnson 80056) may be given.
      • With definitive diagnosis, specific dietary regimens, available for most inborn errors of metabolism (IEMs), should be initiated.
  • Pharmacologic therapy to increase activity of abnormal cofactor-dependent enzymes (eg, thiamine [B-1] 5-20 mg/d PO up to 500 mg/d, biotin 5-20 mg/d PO, riboflavin [B-2] 200-300 mg PO tid, cobalamin [B-12] 1-2 mg/d IM) may be given. Vitamins may be given empirically.
  • Transplantation (organ or bone marrow)
  • Enzyme replacement therapy
  • Gene therapy

Further Outpatient Care

  • Medical therapy specific for the inborn error of metabolism diagnosed will need to be continued, usually for life.
  • Long-term, routine follow-up screening should be provided for potential disease complications.

Transfer

  • Patients may require transfer to a tertiary care facility for further evaluation and treatment.
    • Treatment to stabilize the patient should be initiated prior to transfer.
    • Do not delay treatment to arrange transfer.
    • When selecting the mode of transport and transport team, keep in mind that patients may deteriorate rapidly.

Deterrence/Prevention

  • Strict adherence to dietary and pharmacologic regimen is recommended for patients diagnosed with an inborn error of metabolism.
  • Early treatment symptoms and recognition that physiologic stressors, including intercurrent illness, trauma, surgery, and changes in diet may precipitate symptoms, is important in avoiding metabolic decompensation.

Complications

  • Complications of metabolic diseases may include the following:
    • Significant neurologic impairment
    • Death

Prognosis

  • Prognosis varies based on individual inborn error of metabolism (IEM) and may differ for different forms of a particular IEM.
  • A high index of suspicion is critical for early diagnosis and treatment of IEM.
  • Rapid treatment may be life saving and often results in full recovery.

Patient Education

  • Provide education regarding disease and patient care (manifestations, course of disease, treatment, psychosocial support) as appropriate.
  • Provide genetic counseling to discuss recurrence risks, screening of other family members, and prenatal diagnosis.
  • Provide information regarding support groups. National Organization of Rare Diseases (NORD) can direct families to resources for more than 1000 IEMs. Professional and peer support groups exist for many IEMs.

Miscellaneous

Medicolegal Pitfalls

  • Delay in recognition and treatment may result in long-term neurologic impairment or death. Initiate treatment as quickly as possible.
  • Consider IEMs in all neonates and young infants with unexplained death.
  • Make every effort to collect specimens for definitive diagnosis while the child is acutely ill (particularly samples for biochemical analysis since biochemical abnormalities may be transient).
  • Obtain specimens immediately postmortem in children with unexplained death.
 


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References
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References

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Further Reading

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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

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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.

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.

 
 
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