LP268082-7
Globotriaosylsphingosine
Active
Description
Globotriaosylsphingosine (lyso-Gb3) is the deacylated, cationic, amphiphilic glycolipid product of globotriaosylceramide (Gb3). Gb3, lyso-Gb3, and an un-described additional metabolite of Gb3 are markedly increased in the plasma of male patients with classic Fabry disease. Fabry disease is caused by a deficiency of alpha-galactosidase A due to a mutation in the alpha-galactosidase A gene on the X chromosome. It leads to renal insufficiency, cardiac hypertrophy, and neuropathy that is thought to be due to the accumulation of Gb3 in the endothelium. However, treatment of Fabry disease with enzyme therapy decreases the Gb3 in the endothelium, but does not eliminate disease symptoms to the degree expected. In addition, plasma and urinary levels of Gb3 do not correlate with disease severity which suggests little or no correlation of the plasma level of Gb3 and the cause of disease. The plasma levels that do correlate with symptoms of disease are lyso-Gb3. Lyso-Gb3 is present in the plasma of Fabry patients in much higher levels than Gb3. It is believed to inhibit the activity of alpha-galactosidase A, promote the storage of Gb3, and induce the proliferation of smooth muscle cells in vitro. In Fabry disease, there is known accelerated hypertrophy of the walls of the radial artery and a thickening of the intima media of the common carotid artery as a result of smooth muscle cell proliferation. PMID: 18287059 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Globotriaosylsphingosine
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-07-17
- Construct for LOINC Short Name
- Globotriaosylsphingosine
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Globotriaosilesfingosina |
| it-IT | Italian (Italy) | Globotriaosylsphingosine |
| zh-CN | Chinese (China) | 三聚己糖神经鞘氨醇 Synonyms: 三聚己糖鞘氨醇; |
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