LIPOMUCOPOLYSACCHARIDOSIS Meaning and
Definition
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Lipomucopolysaccharidosis is a rare genetic disorder characterized by the buildup of a type of complex sugar molecule called mucopolysaccharides in various tissues of the body, including the skin, bones, and internal organs. It is classified as one of the mucopolysaccharidoses, a group of inherited metabolic diseases.
In lipomucopolysaccharidosis, the excessive accumulation of mucopolysaccharides is primarily found in lipids or fat cells, leading to the formation of fatty tumors or lipomas throughout the body. These lipomas can be seen or felt under the skin, often in the trunk or extremities.
Symptoms of lipomucopolysaccharidosis can vary widely depending on the specific type, but commonly include developmental delays, facial abnormalities such as a prominent forehead and flat nose, skeletal abnormalities, and organ enlargement. Individuals affected by this condition may also experience hearing loss, heart valve abnormalities, and progressive neurological decline.
Lipomucopolysaccharidosis is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The condition is caused by mutations in specific genes that are responsible for producing enzymes needed to break down mucopolysaccharides.
Treatment options for lipomucopolysaccharidosis are limited and predominantly aim to manage symptoms and improve quality of life. These may include surgery to remove lipomas, supportive care to address various organ and developmental problems, and physical and occupational therapies to assist with mobility and daily activities.
Common Misspellings for LIPOMUCOPOLYSACCHARIDOSIS
- kipomucopolysaccharidosis
- pipomucopolysaccharidosis
- oipomucopolysaccharidosis
- lupomucopolysaccharidosis
- ljpomucopolysaccharidosis
- lkpomucopolysaccharidosis
- lopomucopolysaccharidosis
- l9pomucopolysaccharidosis
- l8pomucopolysaccharidosis
- lioomucopolysaccharidosis
- lilomucopolysaccharidosis
- li-omucopolysaccharidosis
- li0omucopolysaccharidosis
- lipimucopolysaccharidosis
- lipkmucopolysaccharidosis
- liplmucopolysaccharidosis
- lippmucopolysaccharidosis
- lip0mucopolysaccharidosis
- lip9mucopolysaccharidosis
- liponucopolysaccharidosis
Etymology of LIPOMUCOPOLYSACCHARIDOSIS
The word "lipomucopolysaccharidosis" is a complex medical term used to describe a group of inherited disorders known as lysosomal storage diseases. The etymology of the word can be broken down as follows:
1. Lipo-: Derived from the Greek word "lipos", meaning "fat". This prefix is used to denote the involvement of fatty tissues or lipids in the disease.
2. Mucopolysaccharidosis: This term is a combination of several components:
- Mucopolysaccharide: Consists of "muco-" derived from "mucus" and "-polysaccharide" which signifies a complex carbohydrate. It refers to the buildup of certain complex carbohydrates (glycosaminoglycans) in tissues and organs affected by the disease.
