Have a symptom?
See what questions
a doctor would ask.
Diseases » Gaucher Disease » Undiagnosed

Undiagnosed Gaucher Disease

Undiagnosed Causes of Gaucher Disease

As part of Gaucher Disease diagnosis, consider whether any of these underlying medical Gaucher Disease causes may have been overlooked:

  • All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency
  • More hidden causes »

Undiagnosed Complications of Gaucher Disease

As part of Gaucher Disease diagnosis, consider whether any of these Gaucher Disease complications may have been overlooked:

Undiagnosed Diseases

Read our premium medical health articles on topics related to undiagnosed conditions in general, not necessarily specific to Gaucher Disease:

About undiagnosed conditions:

One possible misdiagnosis is the failure to correctly diagnose Gaucher Disease leading to a person remaining with undiagnosed Gaucher Disease. Any condition can potentially be missed and stay undiagnosed. For a general overview of diseases that are often undiagnosed, see Failure to Diagnose or Under-Diagnosed Diseases.


By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise