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Tyrosinemia Treatment & Management

  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD  more...
Updated: Aug 13, 2015

Medical Care

Since the development of screening methods for succinylacetone, with the ensuing application to newborn screening, many patients are being detected prior to clinical decompensation, thus enabling initiation of treatment with nitisinone (NTBC), which has become the medical therapy of choice after extensive, worldwide experience.[13] Additional experience with NTBC therapy has shown a direct correlation between age of initiation and subsequent clinical course.

Most patients with tyrosinemia who are not diagnosed at birth are so ill at the time of presentation that inpatient treatment is mandatory.

Direct medical therapy is aimed at the acute hepatic decompensation and coagulopathy from the outset. Replenishment of depleted coagulation factors may be essential to prevent exsanguination. After stabilization, nitisinone should be started.

Nutritional treatment should be designed to minimize the phenylalanine-tyrosine load to only essential requirements.


Surgical Care

If the critically ill child can be sufficiently stabilized by medical means, surgery has no role.

Liver transplantation is the treatment of last resort (eg, the development of severe cirrhosis or hepatic tumor).[14]



See the list below:

  • Biochemical geneticist
  • Hepatologist or gastroenterologist
  • Hematologist


All children should be prescribed a low-phenylalanine low-tyrosine diet designed to meet their needs for growth without providing excesses of these amino acids.

Only a highly experienced nutritionist working with a biochemical geneticist can properly oversee the nutritional regimen.



Normal childhood activity does not need to be restricted.

Contributor Information and Disclosures

Karl S Roth, MD Retired 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 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, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

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 Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

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