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Case Reports
. 1985;71(1):89-91.
doi: 10.1007/BF00295676.

Maple syrup urine disease: two different forms within a single family

J Frézal, O Amédée-Manesme, G Mitchell, S Heuertz, F Rey, J Rey, J M Saudubray
Case Reports

Maple syrup urine disease: two different forms within a single family

J Frézal et al. Hum Genet. 1985.

Abstract

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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