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    Type 1 Tyrosinaemia

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    Authors
    Mannion, MA
    Smith, A
    Mayne, P
    Monavari, AA
    Issue Date
    2016-06
    Keywords
    GENETIC DISORDERS
    
    Metadata
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    Publisher
    Irish Medical Journal
    Journal
    Irish Medical Journal
    URI
    http://hdl.handle.net/10147/620920
    Abstract
    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 pathognomonic biomarker succinylacetone on urine organic acid analysis. We discuss the clinical presentation, biochemical and genetic results including one novel mutation. We also highlight the importance of early initiation of Nitisinone (NTBC), which reduces the complications of TYR1 and the incidence of liver transplantation in this population2.
    Item Type
    Article
    Language
    en
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    Temple Street Hospital

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