Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

ABSTRACT: Tyrosinemia type 1 is an autosomal recessive aminoacidopathy caused by fumarylacetoacetate hydrolase (FAH) deficiency. Consequently, tyrosine and its metabolites accumulate, resulting in liver and kidney toxicity. Symptoms of the disease usually manifest after three weeks of life and include vomiting, failure to thrive, hepatomegaly, jaundice, bleeding diathesis, rickets and renal tubular dysfunction. Untreated, the disease eventually progresses to liver or kidney failure and generally results in a fatal outcome. Expedient diagnosis is critical because an early start of treatment can increase the likelihood of a positive outcome. Here, we report on a male newborn with a family history positive for tyrosinemia type 1 who was subjected to a metabolic work-up immediately after birth. Amino ac

SUBMITTER: Skaricic A 

PROVIDER: S-EPMC8620914 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature