Gaucher Disease

Introduction

Gaucher disease is a rare inherited disorder characterized by deposition of a type of fat (lipid) called glucocerebroside which cannot be adequately degraded. The disease is occurred due to deficiency of an enzyme i.e., glucocerebrosidase, which helps to breaks glucocerebroside. Gaucher disease is caused by the transformations (mutations) in a single gene called GBA. Transformations within the GBA gene cause very low levels of glucocerebrosidase.

An individual who has Gaucher disease acquires a mutated duplicate of the GBA quality from each of his/her guardians. It affects certain organs and tissues only, particularly Spleen and Liver, bone marrow and nervous system interfering with normal functioning.

Gaucher disease is of various types depending on their characteristic features. It causes the particular organ or tissue to enlarge which affects the normal functioning of the organism. The fatty substances too can build up in bone tissue, debilitating the bone and expanding the hazard of fractures. In case the bone marrow is affected, it can be meddled along with your blood's ability to clot. The signs and symptoms of this disease vary widely and are most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age. Treatment often includes enzyme replacement therapy.

Type 1 is the most common, does not influence the nervous system and may show up early in life or adulthood. Numerous individuals with Type 1 Gaucher disease have discoveries that are so mellow that they never have any issues from the disorder. Type 2 and 3 do influence the nervous system. Type 2 causes genuine medical issues starting in the earliest stages, whereas Type 3 advances more slowly than Type 2.There are too other more bizarre forms that are difficult to classify inside the three Types.

Symptoms

·         Enlargement of the liver and spleen(hepatosplenomegaly).

·         A low number of red blood cells (anemia).

·         Easy bruising caused, in part, by a low level of platelets (thrombocytopenia).

·         Bone disease(bone pain and fractures).