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Wolman syndrome

Wolman syndrome. Deepasree Bangaru-Raju BSMS. Synonyms. Wolman's disease Acid Cholesterol Ester Hydrolase Deficiency, Type 2 LIPA Deficiency LAL Deficiency. Pathology.

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Wolman syndrome

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  1. Wolmansyndrome Deepasree Bangaru-Raju BSMS

  2. Synonyms • Wolman's disease • Acid Cholesterol Ester Hydrolase Deficiency, Type 2 • LIPA Deficiency • LAL Deficiency

  3. Pathology • Abramov, Schorr and Wolman in 1956 first described the disease in a child born to closely related Persian Jews. • Rare autosomal recessive deficiency of lysosomal acid lipase activity causing accumulation of cholesterol and triglycerides throughout body tissues and death within first 6 mos)

  4. Genetics • Location: 10q23.2-q23.3

  5. THE END

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