Acetazolamide for phosphomannomutase deficiency in children: a clinical trial

Takeaway

  • A clinical trial of hosphomannomutase deficiency (PMM2-CDG) found the intervention to be well-tolerated and improves cerebellar syndrome in most patients.

Why this matters

  • This is the first clinical trial of a medication for children with PMM2-CDG, and AZA was well tolerated with no stroke-like episodes, an acute neurological complication associated with PMM2-CDG.

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