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

Sep 30, 2018 Case Study Metabolic Health Neurological Health Orphan Disease

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-glutamine and nicotinamide riboside led to improved biochemical markers, including higher glutamine levels in the blood and cerebrospinal fluid, and reduced ammonia levels.
Brain imaging revealed only mild changes, with overall normal brain development for her age.
At 36 months, the patient could sit with support, babble, and speak a few meaningful words. Her social interactions had improved, showing better responsiveness to speech and a wider range of emotional expression.

Duration

6 months

Dose

L-Glutamine:
Started at 1000 mg/kg, reduced to 500 mg/kg due to vomiting, and later increased to 750 mg/kg.

NR: 250 mg

Study Design

Retrospective, single-patient, clinical case study of a 30-month-old female child with congenital glutamine synthetase (GS) deficiency

See Published Study

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