Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
Niemi, A.-K.; Brown, C.; Moore, T.; Enns, G.M.; Cowan, T.M.
Molecular Genetics and Metabolism Reports 1: 129-132
The pathophysiology of succinic semialdehyde dehydrogenase (SSADH) deficiency is not completely understood. Oxidative stress, mitochondrial pathology, and low reduced glutathione levels have been demonstrated in mice, but no studies have been reported in humans. We report on a patient with SSADH deficiency in whom we found low levels of blood reduced glutathione (GSH), and elevations of dicarboxylic acids in urine, suggestive of possible redox imbalance and/or mitochondrial dysfunction. Thus, targeting the oxidative stress axis may be a potential therapeutic approach if our findings are confirmed in other patients.