Tier 4 — mechanistic

S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review

Lee A, Knox R, Reynolds M, McRoy E, Nguyen H
JIMD reports 2023 64; 6; 417-423

Bibliography

PubMed
PMID 37927483
PubMed Central
PMC10623096
DOI
10.1002/jmd2.12395
Funding
Funding details are not specified in the accessible publication information.
Competing interests
The authors reported no competing interests.

Study snapshot

DesignClinical case report
ModelHuman participants
SampleOne newly described child; review of three earlier Arts syndrome cases
InterventionS-adenosylmethionine with NR; new case received NR 300 mg/day
DurationIndividual clinical follow-up
EndpointsClinical course; metabolic replacement response

What the study showed, in plain terms

This case and review describe metabolic replacement therapy in severe PRPS1 deficiency using SAMe with NR.

Key findings

This case and review describe metabolic replacement therapy in severe PRPS1 deficiency using SAMe with NR.

What this study can and cannot tell us

Very rare disorder, uncontrolled observations and combination treatment; findings cannot be generalized to common fatigue, aging or routine childhood supplementation.

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Editorial review

Reviewed by the Biohack Blueprint research team

Last verified

Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology