LP268357-3
Apolipoprotein CIII-0
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Description
Apolipoprotein CIII (ApoCIII) is an 8.8-kDa polypeptide with three isoforms, each of which have a single core 1 mucin type O-glycosylate protein. When a defect occurs in the Golgi apparatus, mucin type O-glycosylation is impaired and results in one of the over 100 inherited metabolic disorders that are known collectively as congenital disorders of glycosylation (CDG). ApoCIII isoform analysis, which includes the apolipoprotein CIII-0/apolipoprotein CIII-2 ratio and the apolipoprotein CIII-1/apolipoprotein CIII-2 ratio, is one of the screening tests for CDG. The levels of the ratios will change if the defect in the Golgi apparatus is present. CDG are characterized by an array of multi-systemic disorders that include developmental delay, hypotonia, with or without neurological abnormalities, abnormal magnetic resonance imaging findings, skin manifestations, and coagulopathy. CDG varies widely in its severity ranging from a mild to severe presentation. PMID: 24507773 PMID: 14578315 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Apolipoprotein CIII-0
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-08-14
- Construct for LOINC Short Name
- Apo CIII-0
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Apolipoproteína CIII-0 |
| it-IT | Italian (Italy) | Apolipoproteina CIII-0 |
| zh-CN | Chinese (China) | 载脂蛋白 CIII-0 Synonyms: Apo CIII-0 |
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