Tyrosinemia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Tyrosinemia
L-tyrosine-skeletal.png
Tyrosine
ICD-10 E70.2
ICD-9 270.2
OMIM 276700 276600 276710
DiseasesDB 13478 13486 29836
eMedicine ped/2339 
MeSH D020176

Overview

Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation.

Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).[1]

Historical Perspective

Classification

Tyrosinemia is inherited in an autosomal recessive pattern.

There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.

Pathophysiology

Causes

Differentiating Tyrosinemia from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

Medical Therapy

Surgery

Prevention

See also

External links

References

  1. Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. Chapter 79. New York: McGraw-Hill.

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