Disease or Syndrome
Wolman's disease
Subclass of:
Cholesterol Ester Storage Disease;
Neonatal disorder
Definitions related to wolman disease:
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A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.NCI ThesaurusU.S. National Cancer Institute, 2021
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Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood. In the severe, early-onset form of lysosomal acid lipase deficiency, lipids accumulate throughout the body, particularly in the liver, within the first weeks of life. This accumulation of lipids leads to several health problems, including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption). In addition, affected infants often have calcium deposits in small hormone-producing glands on top of each kidney (adrenal glands), low amounts of iron in the blood (anemia), and developmental delay. Scar tissue quickly builds up in the liver, leading to liver disease (cirrhosis). Infants with this form of lysosomal acid lipase deficiency develop multi-organ failure and severe malnutrition and generally do not survive past 1 year. In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms vary and usually begin...MedlinePlus GeneticsU.S. National Library of Medicine, 2021
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The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(wolman's disease) Severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.CRISP ThesaurusNational Institutes of Health, 2006
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(lysosomal acid lipase deficiency) An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged...National Center for Advancing Translational Sciences
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