Gauchers sygdom er en nedarvet stofskiftelidelse, som skyldes en manglende evne til at nedbryde glucosylceramid, hvilket resulterer i lysosomal oplagring af dette stof og udbredt patologi.
Gaucher disease is an inherited metabolic disorder caused by a failure to degrade glucosylceramide resulting in lysosomal storage of this material and widespread pathology.