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Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), [1] muscle, liver, fibroblasts, and other tissues.
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, [1] also relating to sphingolipid metabolism.
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Pages in category "Lipid storage disorders" The following 31 pages are in this category, out of 31 total. This list may not reflect recent changes. ...
The lysosomal storage diseases are generally classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10 codes are provided where available) [citation needed] (E75) Lipid storage disorders. Gangliosidoses (including Tay–Sachs disease (E75.0-E75.1) - they are a subtype of sphingolipidoses
Gangliosidosis contains different types of lipid storage disorders [1] caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.
NPC1 disease is an autosomal-recessive lipid storage disease. It is mostly known for cholesterol infiltration, which in turn can cause liver failure, lung failure, and even neurodegeneration. [ 11 ] [ 12 ] While the Niemann-Pick disease is caused by homozygous pathogenic mutations in the NPC1 gene, heterozygous mutations can still cause "highly ...