Type II tyrosinemia
| Type II tyrosinemia | |
 | |
|---|---|
| Tyrosine | |
| ICD-10 | E70.2 |
| ICD-9 | 270.2 |
| OMIM | 276600 |
| DiseasesDB | 13486 |
| eMedicine | =/topic{{{eMedicineTopic}}}.htm eMedicineTopic =/{{{eMedicineTopic}}} |
| MeSH | D020176 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT.
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.
Epidemiology and Demographics
Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.
Diagnosis
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.