Article
Type 1 Tyrosinaemia.
Irish medical journal - 10 Jun 2016
Mannion M A, Smith A, Mayne P, Monavari A A
Abstract excerpt
Tyrosinaemia type 1 (TYR1, OMIM# 276700) is a rare autosomal recessive disease that results from an enzyme defect that leads to a deficiency in fumarylacetoacetase (FAH)1. We present 3 cases of TYR1 in the Irish population over a 9 year period, the only cases known to have been diagnosed in Ireland since 1989. The common presenting symptom was hypoglycaemia and the diagnosis was made by the identification of the...
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