Article: Nicotinamide Riboside Supplementation in a Child with Mitochondrial Variant and MELAS-Like Symptoms: Case Report

Nov 12, 2023 Case Study Neurological Health Orphan Disease

Nicotinamide Riboside Supplementation in a Child with Mitochondrial Variant and MELAS-Like Symptoms: Case Report

Objectives

To assess the potential efficacy of NR supplementation as a therapeutic intervention for a child carrying the mitochondrial DNA variant m.12315G>A, which has previously been identified in five individuals with relatively mild clinical presentations.

Journal

American Journal of Medical Genetics Part A

Key Outcomes

The patient exhibited a deficiency of nicotinamide and 1-methylnicotinamide in untargeted metabolomics analysis, indicating NAD+ deficiency at the onset of metabolic issues.
It was unclear whether NR supplementation had any effect on nicotinamide and 1-methylnicotinamide, as the results before and after its supplementation appeared similar in the analysis.

Duration

NR was administered beginning at 35 months old for roughly two years

Dose

60 mg

Study Design

Retrospective, single-patient, clinical case study of a 5-year-old child with the mitochondrial variant m.12315G>A

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