A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in...
6 KB (682 words) - 06:29, 22 September 2024
storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids...
18 KB (1,819 words) - 05:23, 3 April 2024
Lipid metabolism is the synthesis and degradation of lipids in cells, involving the breakdown and storage of fats for energy and the synthesis of structural...
23 KB (2,461 words) - 13:32, 23 August 2024
Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides...
16 KB (1,996 words) - 23:30, 13 August 2024
Niemann–Pick disease (category Lipid storage disorders)
diseases are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen...
30 KB (3,169 words) - 04:58, 25 September 2024
Sandhoff disease (category Lipid storage disorders)
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These...
24 KB (3,024 words) - 19:56, 23 August 2024
Fabry disease (category Lipid storage disorders)
development of the female. Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme...
37 KB (3,906 words) - 03:49, 14 September 2024
GM1 gangliosidoses (redirect from GM1 Storage Disease)
are inherited, autosomal recessive sphingolipidoses, a class of lipid storage disorders. Diagnosis of GM1 can be obtained by genetic and enzymatic testing...
10 KB (1,071 words) - 09:59, 2 June 2024
Gaucher's disease (category Lipid storage disorders)
Gruenberg J (November 2000). "Jamming the endosomal system: lipid rafts and lysosomal storage diseases". Trends in Cell Biology. 10 (11): 459–62. doi:10...
30 KB (3,311 words) - 19:53, 23 August 2024
Tay–Sachs disease (redirect from Tay-Sachs Disorder)
Wiley & Sons. p. 71. ISBN 978-3-527-33189-5. Marinetti, G. V. (2012). Disorders of Lipid Metabolism. Springer Science & Business Media. p. 205. ISBN 9781461595649...
58 KB (6,401 words) - 02:47, 22 September 2024