Article
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
Molecular genetics and metabolism - 1 Mar 2001
Hogema B M, Akaboshi S, Taylor M, Salomons G S, Jakobs C, Schutgens R B, Wilcken B, Worthington S, Maropoulos G, Grompe M, Gibson K M
Abstract excerpt
Inherited succinic semialdehyde dehydrogenase (SSADH; EC1.2.1.24; McKusick 271980) deficiency is a defect of GABA degradation which leads to accumulation of 4-hydroxybutyric acid (gamma-hydroxybutyric acid; GHB) in physiologic fluids of patients. Prenatal diagnosis (PND) was performed in three at-risk pregnancies employing combinations of: (1) reverse-transcription-polymerase chain reaction (RT-PCR) and genomic...
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