Wolman disease

The receptors can be recycled, whereas the lipoprotein remnants in the vesicle are transferred to lysosomes and degraded by lysosomal (hydrolytic) enzymes, releasing free cholesterol, amro acids, fatty acids, and phospholipids. These compounds can be reutilized by the cell. [Note Rare autosomal recessive deficiencies in the ability to hydrolyze lysosomal cholesteryl esters (Wolman disease), or to transport unesterified cholesterol out of the lyso some (Niemann-Pick disease, type C) have been identified.]... 

Wolman disease (cholesteryl ester storage disease)... 

Cholesterol esters Wolman disease, CESD (cholesterol ester storage disease) Acid lipase 10q23.2-q23.3... 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

Lysinuric protein intolerance Hereditary orotic aciduria Pyrimidine-5-nucleotidase def. Familial LCAT def. Wilson disease Acid lipase def. (Wolman disease) 3-Phosphoglycerate dehydrogenase deL Methylentetrahydrofolate reductase def. Methioninsynthase def. 

Biological/Medical Applications Analyzing lipid aggregates diagnosis of Niemaim-Pick disease in cultured cells,Wolman disease as substrates for ceramidase activity,cholesteryl esterases activity, " lipase activity,phospholipases A2 activity, sphingomyelinase activity, sphingosine kinases 1 and 2 activity, synthetase activity ... 

Wolman s disease Cholesterol ester storage disease Acid lipase Cholesterol ester... 

Storage disorders Glycogen storage diseases Gaucher s disease Wolman s disease... 

Amyloidosis, fatty liver, glycogenoses, Wolman s syndrome, hyperchylomicronaemia, Wilson s disease, Zellweger s cerebrohepato renal syndrome, Niemann-Pick disease, mucopolysaccharidoses, etc. 

Panchagnula R, Britto C, Vinod J, et al. (2000) Wolman s disease—a case report. Indian 1 Pathol Microbiol 43 91-92... 

Cholesteryl ester storage disease is a less severe form of Wolman syndrome in which a residual amount (1-5%) of lysosomal acid lipase activity is expressed [108,109]. Patients with this disease may survive until young adulthood. 

Other rare lipid-storage diseases include Wolman s disease (triacylglycerol and cholesterol accumulation), hepatic cholesterol ester storage disease, ceroid storage disease, histiocytosis X, lipid proteinosis, lipid dermatoarthritis and Farber s disease (see Table 12.5 involves storage of acid mucopoly-... 

Wijs method for iodine values, 259 Winterization, 213 Wittig reaction, 290 Wolman s disease, 548 Wool wax, 19,143 World production, 91,107,130,138 see also individual fats Wrasse, lipids, 131... 

Acid lipase (EC 3.1.3.2). Hepatic lipase about 25 % of normal. Cholesterol esters deposited in liver, spleen, intestinal mucosa, lymph nodes, aorta. Hepatomegaly, leading to hepatic fibrosis. Sometimes jaundice and/or splenomegaly. Relatively benign. Autosomal recessive. Wolman s disease (below) is probably the expression of a different mutant allele at the same locus. [J. M.Hoeg et al. Amer. J.Hum. Gen. 36 (1984) 1190-1203]... 

Further reading Fredrickson, D.S. and Ferrans, V.J. (1978). Acid cholesteryl ester hydrolase deficiency. (Wolman s disease and cholesteryl ester storage disease). In Stanbury, J.B., Wyngaarden, J.B. and Fredrickson, D.S. (eds.) The Metabolic Basis of Inherited Disease. 4th Edn., p. 670. (New York McGraw-Hill)... 

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