MUCOSULFATIDOSIS Meaning and
Definition
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Mucosulfatidosis is a rare inherited metabolic disorder characterized by the accumulation of a specific type of lipid called mucosulfatides. It belongs to a group of conditions known as lysosomal storage diseases, which involve the accumulation of substances within cellular structures called lysosomes.
In individuals with mucosulfatidosis, a genetic mutation causes a deficiency or malfunctioning of an enzyme called arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase). This enzyme is responsible for breaking down mucosulfatides, which are normally found in the tissues and fluids of the body. As a result of the enzyme deficiency, mucosulfatides accumulate within the lysosomes of various organs and tissues, leading to a wide range of symptoms and complications.
Common features of mucosulfatidosis include skeletal abnormalities, such as abnormal bone development and joint stiffness, as well as progressive damage to multiple organ systems. Individuals with this condition may experience intellectual disability, impaired growth, cloudy corneas, and heart valve abnormalities. Other symptoms can include enlarged liver and spleen, facial dysmorphism, coarse hair, and a hoarse voice.
The severity and specific symptoms can vary widely among affected individuals, even within the same family. Mucosulfatidosis is typically diagnosed through clinical evaluation, genetic testing, and the detection of mucosulfatides in the urine. While there is currently no cure for mucosulfatidosis, management focuses on symptom relief, supportive care, and rehabilitation services.
Common Misspellings for MUCOSULFATIDOSIS
- nucosulfatidosis
- kucosulfatidosis
- jucosulfatidosis
- mycosulfatidosis
- mhcosulfatidosis
- mjcosulfatidosis
- micosulfatidosis
- m8cosulfatidosis
- m7cosulfatidosis
- muxosulfatidosis
- muvosulfatidosis
- mufosulfatidosis
- mudosulfatidosis
- mucisulfatidosis
- mucksulfatidosis
- muclsulfatidosis
- mucpsulfatidosis
- muc0sulfatidosis
- muc9sulfatidosis
- mucoaulfatidosis
Etymology of MUCOSULFATIDOSIS
The word "Mucosulfatidosis" is a medical term used to describe a rare inherited disorder known as Mucopolysaccharidosis Type III (MPS III), also called Sanfilippo syndrome. The etymology of "Mucosulfatidosis" can be broken down as follows:
1. "Muc(o)-": This prefix is derived from the Latin word "mucus", meaning mucus or secretion.
2. "Sulfat-": Derived from the term "sulfate", which refers to a chemical compound containing sulfur.
3. "-id": A suffix used to form nouns that usually denote a pathological condition or disorder.
4. "-osis": This suffix is used to form nouns indicating a medical or pathological condition.
Similar spelling word for MUCOSULFATIDOSIS
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