Nicotinamide Riboside-Containing β-Hydroxybutyrate Supplementation (NHS101) in Children with Multiple Acyl-CoA Dehydrogenase or Pyruvate Dehydrogenase Deficiency: Case Report

Objective

To evaluate the efficacy of a new preparation of dextro-β hydroxybutyrate salt mixture containing NR (NHS101) in patients with metabolic disorders affecting energy metabolism, specifically MADD and PDH. Additionally, NHS101 was also compared to a similar compound, sodium D,L 3-hydroxybuterate (D,L βHB).

Key Outcomes

• No serious adverse events related to NHS101 were reported.
• MADD (10-year-old patient): Switching from D,L-βHB to NHS101 improved nausea, hospitalizations, walking ability, and quality of life. Patient remained clinically stable after 2.5 years of NHS101 treatment.
• MADD (8-month-old patient): NHS101 replaced D,L-βHB due to high blood sodium. Despite treatment, symptoms worsened. High blood calcium led to a switch back to D,L-βHB. Patient remained stable until 30 months and died from a chest infection.
• PDH (10-week-old patient): Patient stabilized on NHS101 by 2 months. Seizures returned at 5 months, but higher doses reduced frequency. At 7 months, the patient developed a respiratory infection and passedaway

Study Design

Open-label, clinical case study in 2 acyl-CoA dehydrogenase deficiency (MADD) patients and 1 pyruvate dehydrogenase deficiency (PDH) patient

Dose & Duration

0.56 g*

*Each serving of the nutritional product NHS101 was composed of 0.56 g NR, 12 g D-βHB, 1.03 g, 1.13 g calcium, 0.26 g magnesium, citric acid flavoring, and stevia. For a comprehensive overview of the dosing protocol for each patient, please refer to the publication.