Common and Unusual Presentations of SUCLA2 Gene Mutations require thorough Diagnostic Work-up

doi:10.29199/2637-6997/cann-103022

Abstract

Highlights

In a recent, interesting article, Güngör et al reported about a 25 months-old male with Mitochondrial Depletion Syndrome (MDS) due to a novel mutation in the Succinate-CoA-ligase ADP-forming, beta-subunit (SUCLA2) gene [1]
We should be informed if Creatine-kinase (CK) or lactate was elevated, and if the patient underwent needle-EMG or muscle biopsy
Since the activity of respiratory-chain complexes may be reduced on biochemical investigations of the muscle homogenate in SUCLA2 mutation carriers [4], we should know if the patient underwent investigations of the respiratory chain activity on muscle biopsy or skin fibroblasts [Figure 1]

Summary

Introduction

In a recent, interesting article, Güngör et al reported about a 25 months-old male with Mitochondrial Depletion Syndrome (MDS) due to a novel mutation in the Succinate-CoA-ligase ADP-forming, beta-subunit (SUCLA2) gene [1]. The patient presented with encephalomyopathy, manifesting as microcephaly, basal-ganglia lesions, dystonia, absence of head and truncal control, failure to thrive, sensorineural hearing loss, quadruspasticity, and scoliosis [1]. The authors describe the phenotype as encephalo-myopathic [1] but the patient had quadruspasticity, and there is no mentioning that Needle-electromyography (EMG) was myopathic, or that muscle biopsy was myopathic [1].

Results

Conclusion