Red cell plasmalogens
Clinical Background:
Plasmalogens are ether phospholipids synthesized by peroxisomes which are important constituents of cell membranes and myelin.
Low levels are expected in:
1. disorders of Peroxisomal Biogenes...
Plasmalogens are ether phospholipids synthesized by peroxisomes which are important constituents of cell membranes and myelin.
Low levels are expected in:
1. disorders of Peroxisomal Biogenesis
-Zellweger Spectrum disorders (Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease)
-Rhizomelic chondrodysplasia punctata (RCDP) type 1 + 4
2. single enzyme disorders of ether phospholipid biosynthesis
-RCDP type 2 + 3
-Fatty acyl-CoA reductase (FAR1) deficiency
VLCFA, phytanic and pristanic acid all expected to be normal in these conditions.
Plasmalogens analysis is a useful test as a follow up to abnormal VLCFA result to distinguish a ZSD (low plasmalogens) from a β-oxidation defect (normal plasmalogens).
It is also useful when there is clinical suspicion of RCDP types 1-4 or FAR1 deficiency as it may be the only biochemical abnormality.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood
EDTA whole blood
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Specimen Container Paediatric:
EDTA whole blood
EDTA whole blood
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Minimum Volume Adult:
2 mL
2 mL
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Minimum Volume Paediatric:
2 mL
2 mL
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Special Requirement:
Samples must be sent to the referral laboratory to arrive within 72 hours of collection.
Samples must be sent to the referral laboratory to arrive within 72 hours of collection.
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Sample Stability:
4oC up to 2 days
4oC up to 2 days
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Transport Requirements:
First class post
First class post
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Interpretation:
Provided on report.
Provided on report.
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Reference Ranges:
% red cell C16-DMA:C16 3 – 15
% red cell C18-DMA:C18 3 - 21
% red cell C16-DMA:C16 3 – 15
% red cell C18-DMA:C18 3 - 21
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: