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L-arginine is effective in stroke-like episodes of MELAS associated with the G13513A mutation
Ritsuko Shigemi1, Mitsumasa Fukuda, Yuka Suzuki
1Department of Pediatrics, Matsuyama Shimin Hospital, Ohtemachi 2-6-5, Matsuyama, Ehime 791-0067, Japan.
Abstract:
We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully prevented further stroke-like episodes. This is the first report on effective l-arginine therapy in MELAS associated with the G13513A mutation.
Insights
L-arginine therapy effectively treated stroke-like episodes in a 15-year-old boy with MELAS syndrome (G13513A mutation). Supplementation prevented further episodes, marking a significant therapeutic advance for this specific MELAS genetic variant.
Area of Science:
- Mitochondrial Medicine
- Neurology
- Genetics
Background:
- Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare genetic disorder.
- The G13513A mutation is a known cause of MELAS syndrome.
- Stroke-like episodes are a primary clinical manifestation, often leading to significant morbidity.
Observation:
- A 15-year-old male presented with recurrent, acute stroke-like episodes.
- The patient was diagnosed with MELAS syndrome due to the G13513A mitochondrial DNA mutation.
- Episodes occurred rapidly over a short period, indicating a severe disease course.
Findings:
- Intravenous L-arginine administration provided immediate symptomatic relief during acute stroke-like episodes.
- Subsequent oral L-arginine supplementation demonstrated efficacy in preventing the recurrence of these episodes.
- This case is the first to document successful L-arginine therapy specifically for MELAS associated with the G13513A mutation.
Implications:
- L-arginine represents a promising therapeutic agent for managing acute and preventing recurrent stroke-like episodes in MELAS patients with the G13513A mutation.
- This finding may guide future clinical trials and treatment protocols for this specific genetic subtype of MELAS.
- Early intervention with L-arginine could potentially improve patient outcomes and reduce long-term disability.
