Wolman disease is a rare, inherited metabolic disorder that affects the body's ability to break down and store fats. It is caused by a deficiency of the enzyme lysosomal acid lipase (LAL). Symptoms of Wolman disease include severe abdominal pain, vomiting, diarrhea, failure to gain weight, enlarged liver and spleen, and anemia. If left untreated, Wolman disease can be fatal.

The symptoms of Wolman Disease include:

-Failure to gain weight and grow at the expected rate
-Diarrhea
-Vomiting
-Abdominal pain
-Liver enlargement
-Jaundice
-Anemia
-Rickets
-Calcium deposits in the skin
-Enlarged spleen and lymph nodes
-Delayed development
-Seizures
-Cognitive impairment
-Behavioral problems
-Hearing loss
-Vision problems
-Feeding difficulties

Wolman Disease is caused by a genetic mutation in the lysosomal acid lipase (LAL) gene. This gene is responsible for producing an enzyme that helps break down fats in the body. When the gene is mutated, the enzyme is not produced, leading to a buildup of fats in the body's cells and tissues. This can cause a variety of symptoms, including enlarged liver and spleen, poor growth, and diarrhea.

The primary treatment for Wolman Disease is enzyme replacement therapy (ERT). This involves intravenous infusions of a recombinant form of the lysosomal acid lipase enzyme (LAL-D) to replace the missing enzyme. ERT has been shown to improve symptoms and slow the progression of the disease. Other treatments may include dietary modifications, vitamin supplementation, and supportive care.

The primary risk factor for Wolman Disease is a genetic mutation in the lysosomal acid lipase (LAL) gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must pass on the mutated gene for a child to be affected. Other risk factors include having a family history of the disease, being of Ashkenazi Jewish descent, and being a male.

Unfortunately, there is no cure for Wolman Disease. However, there are medications available to help manage the symptoms. These medications include enzyme replacement therapy, cholesterol-lowering medications, and medications to help reduce inflammation.