Wolman

Wolman disease is a severe type of lysosomal storage disease characterized by the accumulation of cholesterol and triglycerides (fats) in cells. It is a rare genetic disorder, typically fatal in infancy.

Symptoms

The symptoms of Wolman disease usually appear within the first few weeks of life. These may include vomiting, diarrhea, and significant developmental delays. The liver, spleen, and adrenal glands of individuals with this disorder are often enlarged. This enlargement is due to the accumulation of fats, which leads to a condition known as hepatosplenomegaly.

Causes

Wolman disease is caused by mutations in the LIPA gene. This gene provides instructions for producing an enzyme called lysosomal acid lipase, which is responsible for breaking down fats in cells. When the LIPA gene is mutated, the enzyme's activity is reduced or absent, leading to the accumulation of fats in cells.

Diagnosis

Diagnosis of Wolman disease is based on the clinical symptoms, biochemical tests, and genetic testing. Biochemical tests involve measuring the activity of the lysosomal acid lipase enzyme in blood cells or tissues. Genetic testing can identify mutations in the LIPA gene.

Treatment

There is currently no cure for Wolman disease. Treatment is supportive and aims to manage the symptoms. This may include nutritional support, medications to control diarrhea, and in some cases, bone marrow transplantation.

Prognosis

The prognosis for individuals with Wolman disease is poor, with most affected individuals dying within the first year of life. However, early diagnosis and management of symptoms can improve quality of life and may extend survival.

See also

• Lysosomal storage disease
• LIPA (gene)
• Hepatosplenomegaly

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