Preferred Label : Dimethylacetals pattern:Imp:Pt:RBC:Nar:;
LOINC status : ACTIVE;
LOINC display name : Dimethylacetals pattern Nar (RBC) [Interp];
LOINC long common name : Dimethylacetals pattern [Interpretation] in Red Blood Cells Narrative;
LOINC short name : DMA pattern RBC-Imp;
LOINC description : 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];
Origin ID : 79343-0;
UMLS CUI : C4071414;
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