genetic

Gaucher disease

Gaucher's disease or Gaucher disease (GD) is a disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, , , low blood count and enlargement of the liver and , and is caused by a of the glucocerebrosidase, which acts on glucocerebroside. When the enzyme is , glucocerebroside accumulates, particularly in white blood cells and especially in . Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone .

Underlined words are explained — tap any of them.

Symptoms — what it feels like

·Hepatosplenomegaly, hypersplenism, , joint pain, symptoms (usually mild), yellowish skin, and

Causes — why it happens

·Glucocerebrosidase

How it's found

· testing

Prevention

·Gene editing

Treatment

· replacement therapy

Complications

·, splenic rupture, bleeding, and

Outlook

·Slightly shortened life expectancy (type I), death in early childhood (type II)

More in Blood

Iron-deficiency anaemia Thalassaemia Sickle cell disease Leukaemia Lymphoma Haemophilia G6PD deficiency Aplastic anaemia Immune thrombocytopenia Multiple myeloma Von Willebrand disease Vitamin B12 deficiency

See all of Blood →

Plain-language summary adapted from Wikipedia. Not medical advice.