Tyrosinemia Follow-up

  • Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 13, 2012
 

Further Inpatient Care

Intercurrent illness in tyrosinemia may precipitate subsequent crises based on diminished intake, causing muscle protein catabolism with release of phenylalanine and tyrosine for energy.

Such crises require admission for treatment.

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Further Outpatient Care

Patients must be under the regular care of a biochemical geneticist and an experienced nutritionist.

Because of the low-phenylalanine, low-tyrosine diet, frequent quantitation of plasma amino acid levels is required. Adjustment is based on these results and on parameters of physical growth.

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Inpatient & Outpatient Medications

In addition to dietary treatment, some advise use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), which prevents the formation of fumarylacetoacetate from tyrosine.[7]

NTBC is available only in an international study protocol.

Close monitoring of patients taking NTBC is essential, according to protocol requirements.

Subsequent, long-term experience with NTBC (nitisinone) has shown this agent to be very effective in both the acute phase of the disease, as well as in prevention of hepatic cellular carcinoma. In addition, children with initial renal tubular dysfunction show complete remission after long-term treatment with NTBC.[8, 9]

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Transfer

Immediately transfer any patient suspected of having tyrosinemia I to a major academic medical center, clinical status permitting.

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Deterrence/Prevention

Aside from treatment with NTBC, no other deterrents of disease onset are known.

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Complications

  • Hepatic cirrhosis
  • Renal Fanconi syndrome, including renal tubular acidosis type II
  • Rickets secondary to renal tubular acidosis (RTA)
  • Peripheral neuropathy
  • Abdominal crisis
  • Seizures
  • Hepatoma or hepatocellular carcinoma
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Prognosis

Without treatment, patients die from chronic hepatic failure by age 2 years. In the later-onset type, death from hepatic failure or hepatic tumor may occur in mid childhood.

Early liver transplantation poses the usual risks and complications of any major organ transplantation, including the risk of rejection.

Although experience with NTBC is limited, the drug appears to be effective in preventing progressive liver and renal disease and in aborting the fulminant clinical onset. The long-term results of NTBC therapy are uncertain.

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Patient Education

Teach family members how to help the patient adhere to dietary restrictions and medication schedules.

Emphasize the importance of regular follow-up care with a biochemical geneticist.

Family members should understand that hepatic malignancy might develop despite all therapy. Medical follow-up care is imperative.

Prenatal diagnosis is possible for future pregnancies.

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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: Nothing to disclose.

Specialty Editor Board

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

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.

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.

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, Department of Pediatrics and Genetics, Director RSA, 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.

References

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