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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family
Aida Lemes1, Paola Blasi, Gabriel Gonzales
1Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay.
Journal of Inherited Metabolic Disease
|June 22, 2006
Abstract:
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.
