Tyrosinemia with plantar keratosis and keratitis anal palmar
نویسندگان
چکیده
An 11 ~-year-old boy, born of a consanguineous marriage, had mental retardation, painful plantar and palmar keratosis, and dendritic keratitis associated with tyrosinemia, p-hydroxyphenylpyruvicaciduria, p-hydroxylaeeticaciduria, and p-hydroxyphenylaceticaciduria. Liver and renal functions were within normal ranges, and vitamin C loading did not correct the metabolic abnormalities. Maintenance on a low-tyrosine, low-phenylalanine diet was associated with resolution of the epithelial lesions and a decrease in the metabolic abnormalities. Four other patients with similar metabolic abnormalities may have had this clinical syndrome.
منابع مشابه
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
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