Diseases

Type 1 Gaucher Disease

Back

Type 1 gaucher's disease or glucosylceramidase deficiency: type 1 gaucher's disease is very mild in nature. Although type 1 gaucher's disease may affect at any age, but adults more commonly get affected with gaucher's disease. Type 1 gaucher's disease usually results in bone pain, broken bones and enlargement of spleen and liver. Kidney and lung problems may also occur in few of the cases. Brain is not involved in gaucher's disease.

SYMPTOMS

Skeletal abnormalities.
Osteopenia.
Bone pain.
Bone fractures.
Enlarged spleen and liver.
Anemia.
Excessive fatigue.
Thrombocytopenia.
Yellow spots in eyes.
Delayed puberty.
Nosebleeds.

CAUSES

Gaucher's disease is usually caused due to the deficiency of enzyme glucocerebrosidase. Enzyme glucocerebrosidase helps in breaking down the fatty material known as glucocerebrosides. Gaucher's disease is an inherited disease, which passes on to the child if both the parents are carrier of gaucher's gene. In case of both the parents being carriers of the gaucher's gene, there are only 25 percent chances in a child to develop gaucher's disease.