INTRODUCTION
Mitochondria play an important role in the generation of adenosine triphosphate via the electron-transport chain through oxidative phosphorylation. Mitochondrial dysfunction often leads to disorders that present with various neurologic, hepatic and muscular symptoms1. Mitochondrial disorders are infrequently diagnosed in India, mainly because of the lack of advanced diagnostic facilities and molecular studies. However, with the increasing availability and feasibility of genetic testing, it has now become possible to confirm these diagnoses – to guide the future management of affected children, as well as for accurate counselling and prenatal diagnosis in future pregnancies in their families2.
Mutations in the polymerase gamma gene (), which codes the DNA polymerase enzyme in mitochondria, are associated with a clinical continuum of heterogeneous syndromes, ranging from infantile-onset epilepsies and liver failure to late-onset ophthalmoplegia and muscle weakness. Alpers disease, or progressive neuronal degeneration of childhood, which first received attention from Alpers in 1931 and was further described with its hepatic manifestation by Huttenlocher and Harding, is a rare mitochondrial disease characterized by its classic triad of refractory
