LP268352-4
Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
Active
Description
Congenital disorders of glycosylation (CDG) are caused by a defect in glycosylation, primarily of proteins and lipids. Protein glycosylation naturally occurs in two ways, either through an N-linkage to the amide group of asparagine or an O-linkage to the hydroxyl group of serine or threonine. The majority of known CDG disorders involve protein N-glycosylation, followed by protein O-glycosylation. Lipid glycosylation disorders have only recently begun to be identified. The primary screening test for N-glycosylation disorders is
serum carbohydrate deficient transferrin analysis PMID: 17506657, and for O-glycosylation disorders is apolipoprotein CIII analysis. PMID: 21175687 The symptoms, presentation, and prognosis for different CDGs varies widely. However, neurological involvement, including seizures, hypotonia, and cognitive impairment, is common, as are bleeding or clotting disorders, feeding disorders leading to failure to thrive, and eye disorders including strabismus and retinal disease. Patients with O- and lipid glycosylation disorders more commonly have dysmorphic features compared to those who have disorders of N-glycosylation. [https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/]
Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Transferrin.carbohydrate deficient and Apolipoprotein C-III panel
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-08-14
- Construct for LOINC Short Name
- CDT + Apo C-III Pnl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | transferrine.koolhydraatdeficiënt & apolipoproteïne CIII panel Synonyms: transferrine.carbohydraat deficient & apolipoproteïne CIII panel |
| es-ES | Spanish (Spain) | Panel de transferrina deficiente en carbohidratos y Apolipoproteían CIII |
| it-IT | Italian (Italy) | Transferrina.carboidrato deficiente & Apolipoproteina CIII, panel Synonyms: Panel Transferrina.carboidrato deficiente e Apolip |
| zh-CN | Chinese (China) | 转铁蛋白.碳水化合物缺乏性 与 载脂蛋白 CIII 组套 Synonyms: 转铁蛋白.碳水化合物缺乏性 与 载脂蛋白 CIII 组套（组合、 |
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