Glucosyl Cerebroside Lipidosis

A rare autosomal recessive familial disorder of lipid metabolism caused by an enzyme deficiency, characterized by widespread reticulum cell hyperplasia in the liver, spleen, lymph nodes, and bone marrow. Beginning in infancy or earlychildhood, splenomegaly, hepatomegaly, and abnormal bone growth develop. Diagnosis is made through biopsy of theliver, spleen,or bone marrow. Mortality rate is high, but children who survive adolescence may live for many years. Alsocalled glucosyl Cerebroside lipidosis.

SYMPTOMS

• Enlarged liver and spleen
• Fatigue
• Anemia
• Bone pain and fractures 
• Easy bruising and bleeding.

CAUSES

Mutations in the gba gene cause gaucher disease. The gba gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).