Type 1 Tyrosinaemia.
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.
National Centre of Inherited Metabolic Disease, Temple Street Childrens University Hospital, Dublin 1.
M A
MA
Mannion
National Centre of Inherited Metabolic Disease, Temple Street Childrens University Hospital, Dublin 1.
A
A
Smith
National Centre of Inherited Metabolic Disease, Temple Street Childrens University Hospital, Dublin 1.
P
P
Mayne
National Centre of Inherited Metabolic Disease, Temple Street Childrens University Hospital, Dublin 1.
A A
AA
Monavari
D015415:Biomarkers / Q000652:urine; D003512:Cyclohexanones / Q000627:therapeutic use; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D006537:Heptanoates / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D007003:Hypoglycemia / Q000209:etiology; D007494:Ireland; D016031:Liver Transplantation; D009154:Mutation / Q000235:genetics; D009579:Nitrobenzoates / Q000627:therapeutic use; D020176:Tyrosinemias / Q000175:diagnosis* / Q000235:genetics
D015415:Biomarkers; D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D006537:Heptanoates; D009579:Nitrobenzoates; C020804:succinylacetone; D006867:Hydrolases; C020156:fumarylacetoacetase; C077073:nitisinone