Abstract
Type-2 tyrosinemia (T-2) is an inborn error of metabolism due to STAT deficiency resulting in high serum tyrosine (TYR) levels. Clinical features include palmoplantar hyperkeratosis, dendritic keratitis and mental retardation. We observed 4 patients (2 children, 2 adult women, serum TYR levels 16-35 mg/dl) from the same familiar group. Skin lesions were present in 3, corneal lesions in 2 and mental retardation in 3 of them. These findings compare to a prevalence of 76 % for skin lesions, 82 % for eye lesions and 53 % for mental retardation in the 17 cases (including our patients) reported up to now. Remarkably, the normotyrosinemic son of an affected mother from our group, born before maternal tyrosinemia was detected, presented with seizures and mental retardation early in life. Lowering of serum TYR by a semisynthetic diet (TYR 20 mg + PHEnylalanine 20 mg/Kg/day) in 2 patients was followed by clearing of eye and skin lesions in 1-2 months. This report confirms the phenotipic variability of T-2. If untreated, this disease may cause mental retardation in 50% or more of affected patients and/or in offsprings of affected mothers. Irreversible corneal clouding may follow longstanding keratitis. A diet of low TYR, low PHE content is recommended in infancy, childhood, during pregnancy and whenever corneal involvement is a prominent feature.
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Garibaldi, L., Durand, P. Soluble tyrosine—amino—transferase (STAT) deficiency tyrosinemiat four cases. Pediatr Res 14, 1428 (1980). https://doi.org/10.1203/00006450-198012000-00117
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DOI: https://doi.org/10.1203/00006450-198012000-00117
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