Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, recognized as the most prevalent enzymopathy globally, limits pentose phosphate pathway (PPP), causing oxidative damage to dopaminergic nigrostriatal (DNS) neurons, has been implicated as a potential risk factor for early-onset Parkinson’s disease (EOPD).
Case presentation: This study details case of 45-year-old male presenting with EOPD. Patient presented with unsteady walk, tremors in left hand and leg, alongside gait disturbances. While biochemical assessments and MRI investigations yielded unremarkable results, Tc-99m TRODAT brain SPECT/CT imaging indicated presynaptic dopaminergic dysfunction within the bilateral basal ganglia. Treatment with Syndopa and Propranolol proved effective.
Conclusion: The combination of genetic, clinical, and imaging findings suggests a potential link between G6PD deficiency and Parkinsonism, supporting the possibility of G6PD playing a role in the development of Parkinson’s disease (PD) in this case. This report underscores the necessity for further epidemiological studies to confirm the association between G6PD deficiency and PD in adults. Further research is essential to elucidate the mechanistic pathways connecting G6PD deficiency to dopaminergic dysfunction and to explore its implications for the pathogenesis, early diagnosis, and therapeutic strategies for PD.
Key words: Case report, G6PD, Parkinson disease, Oxidative stress.
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