Disorders of sphingolipid metabolism and other lipid storage disorders Save
ICD-10 code: E75
Chapter: Endocrine, nutritional and metabolic diseases
Disorders of Sphingolipid Metabolism and Other Lipid Storage Disorders
Sphingolipids are a type of fat that are essential components of cell membranes. They play a key role in cell signaling and the maintenance of cell structure. When sphingolipids are not metabolized properly, it can lead to disorders known as sphingolipid storage diseases.
There are several types of sphingolipid storage diseases, including Niemann-Pick disease, Tay-Sachs disease, and Gaucher disease. These disorders are caused by mutations in genes that are involved in the breakdown of sphingolipids. As a result, sphingolipids build up in the cells and tissues of the body, leading to a range of symptoms.
Common symptoms of sphingolipid storage diseases include enlarged livers and spleens, skeletal abnormalities, neurological problems, and developmental delays. These disorders can be diagnosed through genetic testing and other diagnostic tests.
Other lipid storage disorders include Fabry disease, which is caused by a deficiency of the enzyme alpha-galactosidase A, and Wolman disease, which is caused by a deficiency of the enzyme lysosomal acid lipase. These disorders can also lead to a buildup of lipids in the body, causing symptoms such as abdominal pain, diarrhea, and weight loss.
Treatment for sphingolipid storage diseases and other lipid storage disorders typically involves managing symptoms and providing supportive care. For example, enzyme replacement therapy may be used to replace the missing or deficient enzymes in some cases. Bone marrow or stem cell transplantation may also be used in certain cases.
- Conclusion
Sphingolipid storage diseases and other lipid storage disorders are rare but serious conditions that can lead to a range of symptoms. Early diagnosis and treatment can help manage symptoms and improve outcomes for affected individuals. If you or someone you know is experiencing symptoms of these disorders, it is important to seek medical attention as soon as possible.
Diagnosis Codes for Disorders of sphingolipid metabolism and other lipid storage disorders | E75
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