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

Aug 7, 2025 Case Study Neurological Health Orphan Disease Sensory (Auditory/Optical)

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 vision impairment.

Journal

Ophthalmic Genetics

Key Outcomes

Following the initiation of supplementation with SAMe and NR, the patient reported a marked improvement in fatigue, with no further deterioration in vision.

Duration

Approximately one year

Dose

SAMe: 1600 mg

NR: 800 mg

Study Design

Retrospective, observational, single-patient, clinical case study of a 26-year-old adult patient with a somatic mosaic pathogenic varient in the PRPS1 gene, diagnosed with PRPS1 deficiency

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