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.
