Lipid storage disorders

H. Liedtke and G. Legler, in R. Salvayre, L. Douste-Blazy, and S. Gatt (Eds.), Lipid Storage Disorders, Plenum Press, New York, 1988, pp. 353-358. 

NPC1 257220 NPC1 protein F Complex (glyco-sphingo-)lipid storage disorder ... 

I. Cenci di Bello, D. Mann, R.J. Nash and B. Winchester. "Lipid Storage Disorders", Eds. R. Salvayre, L. Douste-Blazy and S. Gatt, Plenum Publishing Corp., New York, U.S.A. 1988, p. 635. 

Glycosphingolipid Ganglioside Biosynthesis Catabolism Nervous system Endoplasmic reticulum Golgi Glycosyltransferase Glycosidase Lipid-storage disorder... 

I Cenci di Bello, D Mann, R Nash, and B Winchester, in Lipid Storage Disorders, R Salvayre, L Douste-Blazy, and S Galt, Eds., Plenum Publishing Corporation, 635 (1988). 

Phospholipidosis Phospholipidosis is a lipid storage disorder which is characterized by lamellar body formation and excess phospholipid accumulation within cells. Drug-induced phospholipidosis is an adverse drug reaction that occurs with many cationic amphiphilic drugs. 

Leistyna, j. a. Lipid storage disorders of the central nervous system. Amer. J. Dis. Child. 104,680(1962). 

Mucolipin, also known as mucolipin 1 or mucolipidin (encoded by the MCOLN1 gene), is a TRP channel-related membrane protein, most probably residing in intracellular membranes. Is defective in mucolipidosis type IV disease, a developmental neurodegenerative disorder characterized by lysosomal storage disorder and abnormal endocytosis of lipids. The fimction of mucolipin is unknown. 

Papadimitriou A, Servidei S. Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate. Neuromuscul Disord 1991 l(4) 247-52. 

Lysosomes are in effect a cellular waste-bin, and play an important role in the turnover and degradation of cytoplasmic organelles and phago-cytosed particles. They facilitate receptor-mediated endocytosis of many macromolecules from the cell membrane. Lysosomes carry hydrolases that degrade nucleotides, proteins, lipids and phospholipids they also remove carbohydrate, sulphate, or phosphate groups from molecules. Lysosomes store iron, either as soluble ferritin or as products of ferritin degradation, such as haemosiderin. Abnormalities associated with lysosomal function cause a variety of storage disorders such as Tay-Sachs disease [9]. 

Atherosclerosis is now regarded as a chronic inflammatory disorder as opposed to one of lipid storage. 

R.A. Igel and R.A. Coleman, Neutral lipid storage disease a genetic disorder with abnormalities in the regulation of phospholipid metabolism, J. Lipid Res., 1998, 39, 31 33. 

Tay-Sachs disease is a fatal genetic disorder where harmful amounts of lipids called ganglioside accumulate in the nerve cells and brains of those affected. Infants with this disorder appear normal for the first several months of life, and then as the lipids distend the nerve cells and brain cells, progressive deterioration occurs the child becomes blind, deaf, and eventually unable to swallow. Tay-Sachs disease occurs mainly in Jewish children of Eastern European descent, and death from bronchopneumonia usually occurs by age 3 to 4 years. A reddish spot on the retina also develops, and symptoms first appear around 6 months of age. It is a lysosomal storage disorder with insufficient activity of the enzyme hexosaminidase A, which catalyzes the biodegradation of the gangliosides. The diagnosis is made by the clinical suspicion and serum hexosaminidase level. Currently there is no treatment available for this disease. 

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