| Autor: |
Rabinowitz LG; Department of Pediatrics, Medical College of Wisconsin, Milwaukee., Williams LR, Anderson CE, Mazur A, Kaplan P |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of pediatrics [J Pediatr] 1995 Feb; Vol. 126 (2), pp. 266-9. |
| DOI: |
10.1016/s0022-3476(95)70558-9 |
| Abstrakt: |
Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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