Neutral lipid storage disease
Neutral Lipid Storage Disease (pronunciation: noo-truhl lip-id stor-ij dih-zeez) is a rare genetic disorder characterized by the accumulation of triglycerides in various tissues of the body, including the skin, muscles, and liver.
Etymology
The term "Neutral Lipid Storage Disease" is derived from the nature of the lipids that accumulate in the body's tissues. These lipids are referred to as "neutral" because they do not carry a charge, unlike other types of lipids.
Symptoms
The symptoms of Neutral Lipid Storage Disease can vary greatly among affected individuals. Common symptoms include Ichthyosis, a condition characterized by dry, scaly skin, and Myopathy, a disease that causes muscle weakness. Other symptoms may include liver disease, short stature, and cognitive impairment.
Causes
Neutral Lipid Storage Disease is caused by mutations in the ABHD5 or PNPLA2 genes. These genes provide instructions for producing enzymes that are involved in the breakdown of triglycerides. Mutations in these genes disrupt the normal breakdown of triglycerides, leading to their accumulation in various tissues of the body.
Diagnosis
Diagnosis of Neutral Lipid Storage Disease is often based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include a skin biopsy, which can reveal the accumulation of triglycerides in skin cells, and genetic testing, which can identify mutations in the ABHD5 or PNPLA2 genes.
Treatment
There is currently no cure for Neutral Lipid Storage Disease. Treatment is symptomatic and supportive, and may include measures to manage the symptoms of ichthyosis and myopathy. Regular follow-up care is essential to monitor the progression of the disease and adjust treatment as necessary.
See Also
External links
- Medical encyclopedia article on Neutral lipid storage disease
- Wikipedia's article - Neutral lipid storage disease
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