Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.
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.
Lemes
Aida
A
Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay.
Blasi
Paola
P
Gonzales
Gabriel
G
Russi
Maria E
ME
Quadrelli
Roberto
R
Novelletto
Andrea
A
Malaspina
Patrizia
P
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D014583:Uruguay
D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D050644:Succinate-Semialdehyde Dehydrogenase