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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family
Author(s) -
Lemes Aida,
Blasi Paola,
Gonzales Gabriel,
Russi Maria E.,
Quadrelli Roberto,
Novelletto Andrea,
Malaspina Patrizia
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0277-0
Subject(s) - mutation , human genetics , enzyme , endocrinology , dehydrogenase , medicine , genetics , biochemistry , enzyme deficiency , biology , chemistry , gene
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.