Wolman Disease
Description
Wolman disease is a rare, inherited metabolic disorder that affects the body‘s ability to break down fats. This condition is caused by a deficiency in the enzyme lysosomal acid lipase (LAL), which is responsible for breaking down cholesterol esters and triglycerides. As a result, these fats accumulate in various organs, leading to severe complications. This blog provides a comprehensive overview of Wolman disease, covering its symptoms, causes, diagnosis, and management.
Genes Involved
Wolman disease is caused by mutations in the LIPA gene, located on chromosome 10. This gene provides instructions for making the LAL enzyme. Mutations in the LIPA gene lead to a deficiency of LAL, causing the buildup of fats.
Recognizing the Signs and Symptoms
The signs and symptoms of Wolman disease typically appear within the first few weeks of life. They include:
- Failure to thrive: Infants with Wolman disease often fail to gain weight and grow at the expected rate.
- Vomiting and diarrhea: These symptoms are common due to the accumulation of fats in the liver and intestines.
- Enlarged liver and spleen: The accumulation of fats can cause these organs to become enlarged.
- Jaundice: The buildup of bilirubin in the blood can cause yellowing of the skin and eyes.
- Hepatomegaly: The liver becomes enlarged.
- Splenomegaly: The spleen becomes enlarged.
- Hypoglycemia: Low blood sugar levels
- Adrenal insufficiency: The adrenal glands, which produce hormones like cortisol, may not function properly.
- Progressive neurological problems: Seizures and other neurological complications may develop.
Causes
Wolman disease is caused by a genetic mutation in the LIPA gene. This gene is responsible for producing the enzyme lysosomal acid lipase (LAL), which is essential for breaking down fats. Without this enzyme, fats accumulate in various organs, leading to the symptoms of the disease.
Inheritance/recurrence risk
Wolman disease is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the disease. If both parents are carriers, there is a 25% chance that their child will inherit Wolman disease, a 50% chance that their child will be a carrier, and a 25% chance that their child will not inherit the disease.
