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pubmed-article:2712823pubmed:abstractTextA metabolic screening program of inbred strains of mice has detected a marked organic aciduria in the BALB/cByJ strain. Gas chromatographic and mass spectrometric analysis identified large quantities of n-butyrylglycine plus lesser quantities of ethylmalonic acid. Crosses with the nonexcreting C57BL/6J strain indicate that this condition is inherited as an autosomal recessive trait. Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered. Data from a three-point cross indicated that the null variant maps to the structural locus for the enzyme, Bcd-1, on chromosome 5. The findings indicate that a mutation at or near Bcd-1 in the BALB/cByJ strain resulted in a biochemical abnormality manifest as the BCD deficiency. It is concluded that accumulation of butyryl CoA due to a block in the oxidation of short-chain fatty acids results in an overproduction of organic metabolites leading to the observed organic aciduria. The fact that other BALB/c substrains do not exhibit this abnormality further suggests that this disorder reflects subline divergence within the BALB/c family.lld:pubmed
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pubmed-article:2712823pubmed:articleTitleOrganic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice.lld:pubmed
pubmed-article:2712823pubmed:affiliationDepartment of Anatomy and Cell Biology, Georgetown University School of Medicine, Washington, D.C. 20007.lld:pubmed
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pubmed-article:2712823pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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