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About Chanarin-Dorfman Syndrome

What is Chanarin-Dorfman Syndrome?

Chanarin-Dorfman Syndrome (CDS) is a rare genetic disorder that affects the body's ability to break down and store certain fats. It is characterized by an accumulation of triglycerides and other lipids in the liver, spleen, and other organs. Symptoms may include enlarged liver and spleen, jaundice, skin rashes, and neurological problems. Treatment typically involves dietary changes and medications to reduce the amount of fat in the body.

What are the symptoms of Chanarin-Dorfman Syndrome?

The most common symptoms of Chanarin-Dorfman Syndrome include:

-Fatty liver disease
-Growth retardation
-Developmental delay
-Hepatic fibrosis
-Hepatic steatosis
-Hepatic cirrhosis
-Hepatic failure
-Lipid accumulation in the skin
-Acanthosis nigricans

What are the causes of Chanarin-Dorfman Syndrome?

Chanarin-Dorfman Syndrome is a rare genetic disorder caused by mutations in the ABHD12 gene. These mutations can be inherited from a parent or can occur spontaneously.

What are the treatments for Chanarin-Dorfman Syndrome?

The treatments for Chanarin-Dorfman Syndrome vary depending on the individual and the severity of the condition. Generally, treatments may include dietary changes, physical therapy, medications, and/or surgery. Dietary changes may include reducing the amount of fat in the diet, increasing the amount of carbohydrates, and avoiding certain foods that may trigger symptoms. Physical therapy may help to improve muscle strength and coordination. Medications may be prescribed to help reduce inflammation and improve muscle strength. Surgery may be necessary to correct any structural abnormalities.

What are the risk factors for Chanarin-Dorfman Syndrome?

The exact cause of Chanarin-Dorfman Syndrome is unknown, but it is believed to be an inherited disorder. Risk factors for the condition include having a family history of the disorder, being of Ashkenazi Jewish descent, and having a mutation in the ABHD5 gene.

Is there a cure/medications for Chanarin-Dorfman Syndrome?

There is no cure for Chanarin-Dorfman Syndrome, but medications can be used to manage the symptoms. These medications may include anti-inflammatory drugs, antibiotics, and antifungal medications. In some cases, dietary changes may be recommended to reduce the symptoms.