Very Long Chain Fatty Acids (VLCFAs), Serum

X linked adrenoleukodystrophy (X-ALD), or X linked adrenomyelopathy, occurs as result of a defect in a peroxisomal membrane protein involved in the first step in the degradation of very long chain fatty acids (VLCFAs). VLCFAs are important components of brain lipids and their accumulation (due to impaired capacity to β-oxidise these fatty acids) leads to demyelination which in the childhood onset form, affects the brain, spinal cord and peripheral nerves. In the adult onset form, the brain is spared and the symptoms primarily reflect demyelination of the spinal cord and peripheral nerves. Moreover, VLCFAs accumulate in the adrenal cortex leading to adrenal dysfunction. The affected hemizygous males usually have a more severe presentation than the heterozygous females. Affected females may often present as “atypical multiple sclerosis”.

The measurement of VLCFAs is used in the diagnosis of the genetically inherited X-linked disorder X-ALD. Increased levels of hexacosanoic acid in particular, are suggestive of the disease. VLCFAs are also important in the diagnosis and confirmation of a number of metabolic disorders, usually suspected of being present soon after birth.

3 ml Serum Room Temperature

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