Glucosylceramidase Deficiency

Glucosylceramidase deficiency, also known as Gaucher disease, is an inherited disorder in which the body does not properly process certain fats due to the lack of an enzyme, which causes their accumulation in organs and bones.

Common symptoms: It may present with enlargement of the spleen or liver, fatigue, bone abnormalities, and, in some forms, pain in bones and joints.

When to see a doctor? An evaluation is advisable when persistent bone discomfort appears or when findings such as enlargement of abdominal organs are present.

Which specialist treats it? The pediatrician usually detects it at early ages, and the orthopedist manages the effects on bones and joints, within multidisciplinary follow-up. In the presence of symptoms that suggest this type of disorder, it is prudent to seek a professional's opinion.