An ultra-rare myopathy, but important to recognise because it can be treated

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Clinicians in London report the observation of a 27-year-old patient diagnosed with arginine-glycine amidino-transferase (AGAT) deficiency myopathy:

  • the clinical picture combined myopathy and cognitive difficulties dating back to childhood, in a patient with no family history but with known parental consanguinity;
  • She was short in stature and also had ptosis and a discrete facial dysmorphia,
  • The genetic study conducted as part of the national 100,000 genomes plan revealed a homozygous mutation in the GAMT gene encoding AGAT,
  • Functional studies in blood and urine supported the diagnosis,
  • Treatment with oral creatine significantly improved motor strength.

This ultra-rare metabolic myopathy, which has already been reported in the literature, should be recognised and detected as early as possible, as there is a simple and inexpensive treatment available.

 

Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy. Finezilber Y, Massey C, Radley JA, Murphy E. Pract Neurol. 2024 Fév.

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