Tyrosinemia type 1: A case report

Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumarylacetoacetate hydrolase. It hasan autosomal recessive pattern of inheritance. The accumulation of tyrosine and its toxic metabolites succinylacetone and succinylacetoacetate in various tissues leads to the characteristic hepatic failure, renal dysfunction, and neurological crisis. Here, we present acase of a 7-month-old female infant who was brought with complaints of jaundice, dyspnea, altered level of consciousness, refusal tofeed. We highlight the need for early diagnosis, including prenatal testing and initiating treatment at the earliest, which goes a long waynot only in the survival, but also the quality of life in these patients