What Is Wolman Disease?

Wolman disease (cholesterol ester hydrolase deficiency) is autosomal recessive and is characterized by liver, splenomegaly, abdominal distension and adrenal calcification within 1 week after birth.

Walman disease

Wolman disease (cholesterol ester hydrolase deficiency) is autosomal recessive and is characterized by liver, splenomegaly, abdominal distension and adrenal calcification within 1 week after birth.

Wolman disease and cholesterol ester storage disease are alleles (the main phenotype of the same genetic defect), both of which are caused by a defect in the gene encoding cholesterol hydrolase. And triglycerides accumulate in body tissues. Diagnosis is mainly based on clinical characteristics and skin fibroblasts, lymphocytes or other tissue cell culture tests for lipase deficiency. Without special treatment, death is more than 6 months after birth .