Neutral lipid storage disease

From WikiMD's Medical Encyclopedia

(Redirected from Chanarin-Dorfman syndrome)

Chanarin-Dorfman Syndrome smear 2009-11-13

Genetic disorder characterized by the accumulation of neutral lipids in various tissues


Neutral lipid storage disease
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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]

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]

The symptoms of NLSD can vary widely depending on the type and severity of the disease. Common symptoms include:

Genetics[edit]

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]

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]

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]

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]

Categories[edit]


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