Type II tyrosinemia

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

Type II tyrosinemia
Tyrosine
ICD-10 E70.2
ICD-9 270.2
OMIM 276600
DiseasesDB 13486
eMedicine =/topic{{{eMedicineTopic}}}.htm eMedicineTopic =/{{{eMedicineTopic}}} 
MeSH D020176

Overview

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT.

Historical Perspective

Classification

Pathophysiology

Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development.

Causes

Differentiating Type II tyrosinemia from Other Diseases

Epidemiology and Demographics

Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and eye redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded.

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

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