Evidence of Redox Imbalance in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2016 Nov 30

PMID 27896081

Citations 9

Authors

Anna-Kaisa Niemi

Candida Brown

Tereza Moore

Gregory M Enns

Tina M Cowan

Affiliations

Soon will be listed here.

Abstract

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.

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