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What is A child presents with Hepatosplenomegaly, Abdominal distension, Jaundice, Anemia and Adrenal calcification. Which of the following is the Diagnosis? and explain in detail?
Wolman disease is caused by mutations in the lysosomal acid lipase (LIPA) gene and is inherited as an autosomal recessive trait.
Wolman disease is the most severe expression of LAL deficiency; a milder form of LAL deficiency is known as cholesteryl ester storage disease (CESD).