Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy.

Autor: Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK., Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.
Jazyk: angličtina
Zdroj: Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 413-416. Date of Electronic Publication: 2024 Sep 13.
DOI: 10.1136/pn-2023-003954
Abstrakt: Arginine:glycine amidinotransferase (AGAT) deficiency is an ultrarare disorder of creatine metabolism, presenting with developmental delay, characteristic biochemical findings and muscle weakness. Most known cases have been identified and treated in early childhood. We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in adulthood. Treatment with creatine (10-15 g/day) led to a significant and rapid improvement of muscle strength. A literature review of the few reported adult cases confirms that progressive myopathy is a prominent feature that responds well to creatine supplementation. AGAT deficiency, a partially treatable condition, should be considered in the differential diagnosis of a genetic myopathy, particularly in people with developmental delay and progressive myopathy.
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze: MEDLINE
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