Article
Natural history of alkaptonuria.
The New England journal of medicine - 26 Dec 2002
Phornphutkul Chanika, Introne Wendy J, Perry Monique B, Bernardini Isa, Murphey Mark D, Fitzpatrick Diana L, Anderson Paul D, Huizing Marjan, Anikster Yair, Gerber Lynn H, Gahl William A
Abstract excerpt
BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. METHODS: We...
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