Faculty Research 1980 - 1989


Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice.

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Crosses-Genetic, Fatty-Acid-Desaturases: ge, df, Female, Glycine: aa, ur, Isoenzymes: ge, df, Male, Malonates: ur, Mass-Fragmentography, Mice, Mice-Inbred-BALB-C: ge, Phenotype, Sex-Factors, Species-Specificity, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-NON-P-H-S, SUPPORT-U-S-GOVT-P-H-S, Variation-(Genetics)

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Biochem Genet 1989 Feb; 27(1-2):47-58.


RR02512, GM32592, HD23168


A 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.

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