The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been
revolutionised by the introduction of nitisinone but dietary treatment remains essential and …

Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting
enzyme functions, which in turn interfere with normal development and activity of the …

Importance Early identification of individuals at elevated risk of developing chronic kidney
disease (CKD) could improve clinical care through enhanced surveillance and better …

Abstract Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine
metabolism. Without treatment, patients are at high risk of developing acute liver failure …

Abstract Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine
catabolism. TT1 is clinically characterized by acute liver failure, development of …

Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1)
with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks …

Background Since the EU approval of nitisinone in 2005, prognosis for patients with
hereditary tyrosinaemia type 1 has changed dramatically, with patients living with the …

Abstract Background Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder
caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic …

Abstract Introduction Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused
by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway …

Background Nitisinone has transformed the management of hereditary tyrosinaemia type 1
(HT1). However, the risk of developing hepatocellular carcinoma is related to the age at …