Tyrosinemia Type III: A Case Report with a Seven Years Follow-up

Abstract

Hereditary Tyrosinemia type III (OMIM 276710) is a rare inborn error of tyrosine metabolism, which is caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD). This metabolic statement is transmitted in an autosomal recessive trait and hitherto about 18 cases presenting with this disease have been reported in the literature. Because of low prevalence of the disease the clinical phenotype remains variable and unclear but main symptoms are mostly related to the high concentrations of tyrosine and phenolic metabolites namely mental retardation, ataxia, and seizures. We described clinical, biochemical and molecular characteristics of an Iranian female patient with Tyrosinemia type III and her 7-year follow-up plan. A novel variant of HPD (609695) mutation (c.759+1 G>A) was identified in homozygous pattern. Despite not being compliant with the recommended diet, the patient continued to have normal neuropsychiatric development in the follow-up, which questions the efficacy of low-tyrosine diet.