Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors
Matthew T. Snyder,
Joshua Manor,
Charul Gijavanekar
et al.
Abstract:The MT‐TL2 m.12315G>A pathogenic variant has previously been reported in five individuals with mild clinical phenotypes. Herein we report the case of a 5‐year‐old child with heteroplasmy for this variant who developed neurological regression and stroke‐like episodes similar to those observed in mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS). Biochemical evaluation revealed depletion of arginine on plasma amino acid analysis and low z‐scores for citrulline on untargeted plasm… Show more
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