Abstract
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.
Highlights
Tyrosinaemia type 1 (HT1) is caused by a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2, Figure 1)
Nitisinone is a compound that has revolutionised the management of tyrosinaemia type 1 [3,4]
It is a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, an enzyme that is upstream of fumarylacetoacetase (Figure 1)
Summary
Tyrosinaemia type 1 (HT1) is caused by a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2, Figure 1). Clinical presentation and diagnosis Most patients will present clinically in regions without a specific newborn screening programme for tyrosinaemia type 1 a few may be identified because of affected siblings or abnormalities of plasma or urine aminoacids. Renal disease may be the predominant feature, there is always some co-existing liver disease of varying severity Acute These patients present before the age of six months, the most severe between 0–2 months [8], usually with a severe liver disease characterised by a synthetic failure. The main features are coagulopathy, failure to thrive, hepatosplenomegaly and rickets Chronic These patients are more than one year old and present mainly with liver and/or renal disease. It requires some form of sedation in many children
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
