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 supplementation in affected infants, as well as maternal nicotinamide riboside supplementation.

Journal

Molecular Genetics and Metabolism

Key Outcomes

• Maternal supplementation with NR during pregnancy was well-tolerated and showed no adverse effects; the second child of Patient 1's mother was born healthy and was not affected by KYNU deficiency.
• Postnatal treatment with NAM and pyridoxine was safe and well-tolerated, with Patient 2 demonstrating normal motor and cognitive development at eight months of age.

Duration

Patient 1: NAM for 3.5 months and pyridoxine for 2 months

Patient 2: NAM for 7.5 months and pyridoxine for 7 months

Maternal NR Supplementation: Early pregnancy until birth of second child

Dose

Patient 1 & 2: 50 mg of nicotinamide (NAM) and 25 mg of pyridoxine (later increased to 50 mg)

Compounds were intravenously administered if oral supplementation was not possible.

Maternal Supplementation: 900 mg NR (reduced to 400 mg at 10 weeks gestation)

Study Design

Restrospective, multi-patient clinical case study of two infants with congenital KYNU deficiency