A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease |
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| Authors: | A H Fensom P F Benson J E Baker |
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| Affiliation: | Paediatric Research Unit, The Prince Philip Research Laboratories, Guy''s Hospital Medical School, London SE1 9RT U.K. |
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| Abstract: | A sensitive assay for measurement of branched-chain keto acid decarboxylation in small numbers of fibroblasts or amniotic cells grown in the wells of a microtitre plate using [1-14C]leucine as substrate is described. The method was applied to the amniotic cells from a pregnancy at risk for maple syrup urine disease and a heterozygous fetus predicted. |
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| Keywords: | To whom correspondence should be addressed. |
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