Very Long Chain Fatty Acids (VLCFAs)
- Very long chain fatty acid (VLCFA) analysis is indicated in the differential diagnosis of peroxismal disorders.
- Peroxisomes are intracellular organelles which contain the enzymes required for β-oxidation of VLCFA (fatty acids with chain lengths of more than 22 carbon atoms).
- VLCFA can be increased in disorders such as adrenoleukodystrophy, Refsum's and Zellweger syndrome. Pristanic and phytanic acid are also assayed to assist in the differential diagnosis of these very rare conditions.
- These patients may present with profound neurological and metabolic problems in infancy, or neurological and adrenal problems in childhood and adult life, depending on the disease.
- Fasting samples preferred, sent promptly to the laboratory
For adults, blood taken into a 4mL EDTA tube (lithium heparin or plain serum also suitable)
For children, blood taken into a 2mL lithium heparin tube (minimum 500uL plasma required)
Do not store. Send at ambient temperature to the laboratory on the same day as sample collection, as promptly as possible.
Relevant clinical details, including details of clinical presentation.
Samples are sent for analysis at the North Bristol NHS Trust with a result expected back within 2 weeks.
|C26||0.33 - 1.39||µmol/L|
|C24:C22||0.32 - 1.07|