Abstract:Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives.
Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretio… Show more
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