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Search results for "Nitisinone"

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


Tyrosinaemia type 1 ( HT1 ) is a rare disorder of tyrosine metabolism leading to liver failure and hepatocellular carcinoma. Treatment previously consisted of dietary restriction and orthotopic liver ...


Alkaptonuria ( AKU ) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for alkaptonuria. Nitisinone ( Orfadin ) decrea ...


Tyrosinemia type 1 ( HT1 ) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylaceton ...


Alkaptonuria ( AKU ) is a rare inherited metabolic disorder with severe premature spondyloarthropathy as a major manifestation. Although joint disease is a major feature, virtually all connective ti ...


Alkaptonuria ( AKU ) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase ( HGD ) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project ...


Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid ( HGA ) to maleylacetoacetic acid in the tyrosine degradation pathway. The three majo ...