Neutral lipid storage disease
(Redirected from Chanarin-Dorfman syndrome)
Genetic disorder characterized by the accumulation of neutral lipids in various tissues
| Neutral lipid storage disease | |
|---|---|
| [[File:|250px|alt=|]] | |
| Synonyms | |
| Pronounce | N/A |
| Field | N/A |
| Symptoms | Muscle weakness, hepatomegaly, cardiomyopathy |
| Complications | N/A |
| Onset | Childhood or adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations |
| Risks | Family history |
| Diagnosis | Genetic testing, Biopsy |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Symptomatic management |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Neutral lipid storage disease (NLSD) is a rare genetic disorder characterized by the accumulation of neutral lipids in various tissues of the body. This condition can affect multiple organs, including the muscle, liver, and heart.
Classification[edit | edit source]
NLSD is classified into two main types:
- Neutral lipid storage disease with myopathy (NLSDM), also known as Chanarin-Dorfman syndrome.
- Neutral lipid storage disease with ichthyosis (NLSDI).
Signs and Symptoms[edit | edit source]
The symptoms of NLSD can vary widely depending on the type and severity of the disease. Common symptoms include:
- Muscle weakness
- Hepatomegaly (enlarged liver)
- Cardiomyopathy (heart muscle disease)
- Ichthyosis (dry, scaly skin) in NLSDI
Genetics[edit | edit source]
NLSD is caused by mutations in specific genes responsible for lipid metabolism. The most commonly affected genes are:
- ABHD5 (also known as CGI-58) in NLSDI
- PNPLA2 (also known as ATGL) in NLSDM
These mutations lead to the improper breakdown and storage of neutral lipids within cells.
Diagnosis[edit | edit source]
Diagnosis of NLSD typically involves:
- Genetic testing to identify mutations in the ABHD5 or PNPLA2 genes.
- Biopsy of affected tissues to observe lipid accumulation.
Treatment[edit | edit source]
There is currently no cure for NLSD. Treatment focuses on managing symptoms and may include:
- Physical therapy for muscle weakness
- Medications for heart and liver complications
- Skin care for ichthyosis
Prognosis[edit | edit source]
The prognosis for individuals with NLSD varies. Some may experience mild symptoms, while others may have severe complications affecting their quality of life.
Related Pages[edit | edit source]
Categories[edit | edit source]
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Contributors: Prab R. Tumpati, MD
