Wolman syndrome
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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

Wolmansyndrome

Deepasree Bangaru-Raju

BSMS


Synonyms
Synonyms

  • Wolman's disease

  • Acid Cholesterol Ester Hydrolase Deficiency, Type 2

  • LIPA Deficiency

  • LAL Deficiency


Pathology
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)


Genetics
Genetics

  • Location: 10q23.2-q23.3



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