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Suggest Treatment For Alkaptanuria
My niece is about 4 years old diagnosed with alkaptanuria. We noticed that her 3 teeth has brown spots with a light hole. He skin tone on the both elbows are slightly darker than before We are giving vitamin c - 2000 mg once a day. Now past few months we have stopped it as per doctors advice as the baby has lot of itching in pelvic area. Here in Bangalore, we still have not found a doctor who treats this condition. is there any medicine or treatment for her.
Fri, 1 Jul 2016
Alkaptanuria is an inborn metabolic error of rare occurance usually manifest
around 3 rd decade of life and rarely symptomatic in early days of life. The discoloration noticed frequently in sclera of eye, skin surfaces is due to deposition of intermediary metabolic substance of amino acid - tyrosine . The anti oxidant property of Vit.C is understood to retard such unwanted deposition but in very high doses. In the mean time nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, has been also tried but its safety for prolonged administration is not established and therefore not useful for practice. If she has any joint problems noted you may consult an rheumatologist. In nutshell unfortunately no definitive treatment is available at this juncture
around 3 rd decade of life and rarely symptomatic in early days of life. The discoloration noticed frequently in sclera of eye, skin surfaces is due to deposition of intermediary metabolic substance of amino acid - tyrosine . The anti oxidant property of Vit.C is understood to retard such unwanted deposition but in very high doses. In the mean time nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, has been also tried but its safety for prolonged administration is not established and therefore not useful for practice. If she has any joint problems noted you may consult an rheumatologist. In nutshell unfortunately no definitive treatment is available at this juncture
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