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NTBC and alkaptonuria

, : NTBC and alkaptonuria. American Journal of Human Genetics 63(3): 920-921

An alternative therapy for alkaptonuria that avoids the problem of gene localization is described. The signs and symptoms of alkaptonuria are thought to be caused by homogentisic acid (HA). The treatment involves the oral administration of the triketone herbicide 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) combined with some dietary restriction of phenylalanine and tyrosine. As triketone herbicides inhibit 4-hydroxyphenylpyruvate dioxygenase, which is the enzyme that produces HA, therapy with NTBC should prevent HA production.

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Accession: 009919776

PMID: 9718357

DOI: 10.1086/302027

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