Article
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
Proceedings of the National Academy of Sciences of the United States of America - 8 Nov 2011
Pierce Sarah B, Spurrell Cailyn H, Mandell Jessica B, Lee Ming K, Zeligson Sharon, Bereman Michael S, Stray Sunday M, Fokstuen Siv, MacCoss Michael J, Levy-Lahad Ephrat, King Mary-Claire, Motulsky Arno G
Abstract excerpt
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of...
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