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Search results for "Alkaptonuria"

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


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 ...


Ochronosis / Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the a ...


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 ...