Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

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Abstract

Summary

We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c. 1226G > A) previously shown to be associated with null enzyme activity.

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