Type II tyrosinemia
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.