Summary
A family is reported in which the index case presented with an acute form of maple syrup urine disease (MSUD), whereas two of her sisters and her father were found to have an almost asymptomatic form of the disease. It is proposed that the members of this family are compound heterozygotes for the classical deficient mutant gene and for a “variant” allele.
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Frézal, J., Amédée-Manesme, O., Mitchell, G. et al. Maple syrup urine disease: Two different forms within a single family. Hum Genet 71, 89–91 (1985). https://doi.org/10.1007/BF00295676
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DOI: https://doi.org/10.1007/BF00295676