Thiamine and Nicotinamide Riboside Improve Symptoms in Charcot-Marie-Tooth Neuropathy: Case Report

Objectives To identify the mechanistic basis of GDAP1 dysfunction in CMT2K and test whether targeted metabolic activation using thiamine and NR can therapeutically correct mitochondrial biochemica...

S-Adenosylmethionine and Nicotinamide Riboside Supplementation Improves Fatigue and Stabilizes Vision in PRPS1 Deficiency: Case Report

Objectives To evaluate the impact of S-Adenosylmethionine (SAMe) and NR supplementation on the clinical symptoms of PRPS1 deficiency, specifically focusing on fatigue, cognitive decline, and visio...

Maternal Nicotinamide Riboside Supplementation During Pregnancy May Prevent KYNU Deficiency in Newborns: Case Report

Objectives To characterize the clinical, genetic, and biochemical features of KYNU deficiency and evaluate the safety and preliminary efficacy of postnatal nicotinamide and pyridoxine supplementat...

Treatment with Bezafibrate and Nicotinamide Riboside Temporarily Stabilizes Cardiovascular Health in Complex I Deficiency: Case Report

Objectives To evaluate the effects of high-dose bezafibrate and NR administration in treating an infant with mutations in the ACAD9 gene, resulting in ACAD9-related complex I deficiency. Journal M...

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 identifi...

Clinical Outcomes of SAMe and Nicotinamide Riboside Supplementation in a Child with Arts Syndrome: Case Report

Objectives To examine the effects of supplementation of S-adenosylmethionine (SAMe) and NR in a child with Arts syndrome and compare to previous Arts syndrome patients who received SAMe with or wi...

Early Nicotinamide Riboside Supplementation Shows Promise in an Individual with Ataxia Telangiectasia: Case Report

Objectives To investigate the effects of NR supplementation in a 3.5-year-old male child with ataxia and recurrent bacterial infections. This was a case study of one individual. Journal Neuropedia...

Treatment with S-Adenosylmethionine and Nicotinamide Riboside Immune Function in Arts Syndrome: Case Report

Objectives To assess whether co-therapy with S-adenosylmethionine (SAMe) and NR could improve clinical symptoms, immune cell function, and overall well-being in a child with Arts syndrome, beyond ...

L-Glutamine and Nicotinamide Riboside Supplementation in Congenital Glutamine Synthetase Deficiency: Case Study

Objectives To assess the clinical and biochemical efficacy of L-glutamine and NR supplementation in a child with congenital GS deficiency. Journal Neuropediatrics Key Outcomes Treatment with L-gl...