eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Ornithine Transcarbamylase Deficiency: Follow-up

Author: Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Contributor Information and Disclosures

Updated: Sep 10, 2009

Follow-up

Further Outpatient Care

  • A biochemical geneticist must oversee patient care because the metabolic integrity of such individuals with ornithine transcarbamylase (OTC) deficiency is very tenuously poised.
  • Proper nutrition does not follow the usual nutritional rules, and any variations from what is appropriate may result in disaster. This is true throughout life but mostly in the growing infant and adolescent child in whom requirements may fluctuate weekly and must be closely monitored.
  • Scrupulous adherence to the dietary and medication recommendations is mandatory for survival. Under no circumstances should this be undertaken by a general physician without close guidance from an expert in the care of patients with inherited metabolic diseases.

Prognosis

  • Most affected male infants with neonatal presentation have not escaped the initial episode with normal mentation. Nonetheless, survival for many years can be achieved with very careful monitoring; use of oral citrulline, benzoate, and phenylacetate; and scrupulous dietary attention.
  • Prognosis for older males with initial onset remains unclear because so many remain undiagnosed until very late in the clinical course.
  • Most heterozygous females appear to be relatively healthy, except for a propensity to develop severe headaches with high protein intake. Women and children who are mildly affected can have an excellent prognosis with proper care.

Patient Education

  • Family pedigree studies in this disease are essential for the following 2 reasons:
    • The X-linked nature of the mutation leads to a 1:2 chance of recurrence in any subsequent male conceptus if the mother is a carrier.
    • All female siblings of the obligate heterozygous maternal carrier are potential carriers, whereas male siblings may be at risk for late-onset presentation. The second reason is derived from the first.
  • Another compelling issue in family counseling is the overwhelming sense of guilt with which the carrier mother must deal.
  • Finally, repeatedly reinforce the parents in their abilities to perceive early signs of hyperammonemia and to take immediate steps to obtain medical care. Prenatal diagnosis is possible.

Miscellaneous

Medicolegal Pitfalls

  • Late-onset ornithine transcarbamylase (OTC) deficiency should be considered in adult males with evidence of acute hepatic encephalopathy.
  • Failure to consider this diagnosis may adversely impact first-degree female relatives and their offspring who might otherwise have been tested and appropriately counseled.  
 


More on Ornithine Transcarbamylase Deficiency

Overview: Ornithine Transcarbamylase Deficiency
Differential Diagnoses & Workup: Ornithine Transcarbamylase Deficiency
Treatment & Medication: Ornithine Transcarbamylase Deficiency
Follow-up: Ornithine Transcarbamylase Deficiency
Multimedia: Ornithine Transcarbamylase Deficiency
References
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References

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Further Reading

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Keywords

ornithine transcarbamylase deficiency, OTC deficiency, ornithine carbamoyltransferase deficiency, OTCD, urea cycle disorder, hyperammonemia, N -acetylglutamate, carbamyl phosphate, citrulline, mental retardation, papilledema, tachypnea, hyperpnea, apnea

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Contributor Information and Disclosures

Author

Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: MDS Pharma Salary Employment

Medical Editor

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research
Disclosure: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee Consulting; Amicus  Consulting

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

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor of Genetics, Munroe Meyer Institute, Professor, Department of Pediatrics, Pathology and Microbiology, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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