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Suggest Treatment For Alkaptonuria
I am suffering from alkaptonuria . As per some articles available online , patients of AKU suggested to use vitamin C (1gm - 5 gm per day) and patients are also prescribed to use nitisinone . But their is no specific method of treatment is available for the disease. In this regard please suggest me specific treatment of AKU.
Thu, 2 Apr 2015
it is an autosomal recessive disorder due to a deficiency of homogentisic acid oxidase, which causes large amounts of homogentisic acid to accumulate in the body and then to be excreted in the urine.since the disease is due to enzyme deficiency and there is no enzyme replacement therapy available for this disease at present,hence there is no specific treatment of this disease at present.gene therapy is still in experimental phase.If pt is picked up in presymptomatic phase ,treatment with nitisinone, combined with a phenylalanine- and tyrosine-restricted diet, seems reasonable option.thank you
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