Tag: Lysosomal storage disorder

With over 7,000 known rare diseases, it is common for names and symptoms to be confused. “The Gaulle disease” is not a recognized medical condition; it is a phonetic misspelling for Gaucher disease, a rare, inherited genetic disorder. This confusion may also stem from the historical figure Charles de Gaulle, whose daughter had Down syndrome, an entirely different condition.

Affecting fewer than 200 people reported in scientific literature, fucosidosis is a rare genetic disorder tied directly to the **FUCA1** gene. For those asking **what is Fuc in medical**, the answer lies within this gene, which provides instructions for making the enzyme alpha-L-fucosidase.