University:
Liberty University
Course:
BIOM 500 | Introduction to Biomedical Sciences
Academic year:

2024
Views:

354

Pages:

5
Author:

Sheha A.

Lipid Storage Disorder (Sphingolipidosis) The term sphingolipidosis is used to represent the group of genetic diseases that result in the accumulation of any one of the sphingolipids (sphingolipidoses or glycolipids). They form a group of lysosomal storage diseases. Sphingolipids are normally degraded by a group of lysosomal hydrolases. If any one of these enzymes is partially or completely absent, the corresponding sphingolipid accumulates resulting in this abnormal storage. It mainly affects the nervous tissues. It causes neurological deterioration that can lead to early death. Examples of sphingolipidoses with their characteristics [The remainder of the text is unclear and difficult to transcribe due to poor image quality and handwriting.] Disease Major Sphingolipid Accumulated Enzyme Absent Symptoms Niemann-Pick Sphingomyelin Sphingomyelinase Enlarged liver and spleen, mental retardation, death in early life Gaucher's Glucocerebroside β-glucosidase Spleen and liver enlargement, mental retardation, death in early life Krabbe's Galactocerebroside β-galactosidase Severe mental retardation, total absence of myelin Fabry's Ceramide trihexoside α-galactosidase A Reddish purple skin rash, renal failure, progressive paralysis Metachromatic Leukodystrophy Sulfatide Arylsulfatase A Mental retardation, ataxia, progressive paralysis Tay-Sachs Gangliosides GM2 β-hexosaminidase A Blindness, mental retardation, seizures, death by 2-3 years Compounds Formed from Cholesterol Cholesterol cannot be broken down in humans. Cholesterol is converted to bile acids, excreted in feces. It also serves as a precursor for the synthesis of steroid hormones, vitamin D, lanosterol, and cholestanol. Bile Acids Bile acids possess 24 carbon atoms and 2 or 3 hydroxyl groups in the steroid ring structure and a side chain ending in a carboxylic acid group. The bile acids are amphipathic in nature since they possess both polar and non-polar groups. They serve as an emulsifying agent in the intestine and participate in the digestion and absorption of lipids.