Abstract
VARIOUS studies have suggested that the excretion of β-amino-isobutyric acid in human urine is under genetic control1–4. This amino-acid is derived from the metabolism of thymine via dihydrothymine and β-ureido-isobutyric acid5. Variation in excretion of β-amino-isobutyric acid may be controlled by a single gene pair, with high excretors being homozygous for a single recessive gene and low excretors being either heterozygous or homozygous for the dominant allele6. It also has been suggested that low and high excretors may differ in their metabolism of β-amino-isobutyric acid7. An increased incidence of high excretors has been found in certain ethnic groups, notably the Athabascan and Apache Indians of North America, the Black Caribs of British Honduras, and the Chinese and Japanese4,6,8. High excretors of β-amino-isobutyric acid are relatively uncommon in populations of Caucasian origin1,2,3.
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PERRY, T., SHAW, K. & WALKER, D. Urinary Excretion of β-Amino-isobutyric Acid in Mongolism. Nature 184, 1970 (1959). https://doi.org/10.1038/1841970a0
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DOI: https://doi.org/10.1038/1841970a0
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