79343-0
LaboratoryDimethylacetals pattern [Interpretation] in Red Blood Cells Narrative
Definition
The pattern of dimethylacetals (DMAs), including DMA 16:0 (1,1-Dimethoxyhexadecane), DMA 18:0 (1,1-Dimethoxyoctadecane), and DMA 18:1 (1,1-dimethoxy-(9Z)octadecene), in red blood cells is used to diagnosis plasmalogen synthesis disorders, including retinitis pigmentosa (RP), rhizomelic chondrodysplasia punctata and Zellweger disease spectrum. Schaefer et. al. (1995) found that dominant, recessive, and isolated forms of RP have higher ratios of DMA 16:0/C16:0, DMA 18:0/C18:0 and DMA 18:1n9/C18:1n9 compared to controls. For X-linked RP, only the DMA 18:1n9/C18:1n9 ratio was significantly higher than in controls.[PMID: 7595066] The ratio of DMA 18:0/C18:0 is reportedly lower in patients with In Zellweger syndrome.[PMID: 3760714]
LOINC 6-Axis Classification
Component
Dimethylacetals pattern
Property
Imp
Time Aspect
Pt
System
RBC
Scale Type
Nar
Method Type
N/A
Details
Class
CHEM
Order/Observation
Observation
Short Name
DMA pattern RBC-Imp
Display Name
Dimethylacetals pattern Nar (RBC) [Interp]
Related Names
Frequently Asked Questions
What is LOINC code 79343-0?
LOINC code 79343-0 identifies "Dimethylacetals pattern [Interpretation] in Red Blood Cells Narrative". The pattern of dimethylacetals (DMAs), including DMA 16:0 (1,1-Dimethoxyhexadecane), DMA 18:0 (1,1-Dimethoxyoctadecane), and DMA 18:1 (1,1-dimethoxy-(9Z)octadecene), in red blood cells is used to diagnosis plasmalogen synthesis disorders, including retinitis pigmentosa (RP), rhizomelic chondrodysplasia punctata and Zellweger disease spectrum. Schaefer et. al. (1995) found that dominant, recessive, and isolated forms of RP have higher ratios of DMA 16:0/C16:0, DMA 18:0/C18:0 and DMA 18:1n9/C18:1n9 compared to controls. For X-linked RP, only the DMA 18:1n9/C18:1n9 ratio was significantly higher than in controls.[PMID: 7595066] The ratio of DMA 18:0/C18:0 is reportedly lower in patients with In Zellweger syndrome.[PMID: 3760714]
What does 79343-0 measure?
This code measures Dimethylacetals pattern in RBC. It belongs to the CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.