What this study looked at
Alpha-mannosidosis (AM) is an ultra-rare inherited disorder that can cause symptoms very similar to the mucopolysaccharidoses (MPS), such as repeated respiratory infections and skeletal changes, which makes it easy to overlook. In this pilot study, researchers re-examined 1,010 stored dried blood spot samples from people who had been suspected of having MPS, using tests that can check both enzyme activity and genes. They wanted to see how often alpha-mannosidosis might be hiding among patients thought to have MPS.
Key takeaways
- Of the 1,010 samples, 158 were genetically confirmed as MPS.
- Further biochemical and genetic testing identified four individuals whose true diagnosis was alpha-mannosidosis.
- Finding this many cases was unexpected and suggests alpha-mannosidosis is more easily missed than assumed, particularly in patients suspected of having MPS.
Why it matters
Simple, widely available tests using dried blood spots make it possible to catch alpha-mannosidosis that would otherwise be missed — a reminder for clinicians to keep it in mind whenever MPS is suspected.
