[Sepsis, as the presenting form of hereditary tyrosinemia type I]. / Sepsis, como forma de presentación de tirosinemia hereditaria tipo I.

A case of hereditary tyrosinemia type I with a septic onset is reported. Diagnosis was established by the urinary presence of succinylacetone (SA) and deficiency in fumarylacetoacetate hydrolase (FAAH) in a culture of fibroblasts. Response to treatment with a diet in which the aminoacids phenylalanine, tyrosine and methionine were restricted is commented upon.