Unusual Symptoms


Lab Test Very Long Chain Fatty Acids July 22, 2014


Interpretation: This profile is essentially normal.
Pytanic Acid   L 0.00 umol/L 0.48 - 3.13
Pristanic Acid 0.02   umol/L <= 0.35
Docosanoic Acid, C22 93.84   umol/L 39.18 - 99.20
Tetracosanoic Acid, C24   93.82 H umol/L 31.26 - 84.11
Hexacosanoic Acid, C26 0.70   umol/L <= 0.94
Ratio C24/C22   1.00 H   0.64 - 0.99
Ratio C26/C22 0.01     0.002 - 0.010
Ratio Pristanic/Phytanic   L 0.00   0.01 - 0.16
Pristanic/Phytanic Discriminant Function 7.3     <= 7.5
To better segregate hemizygote males with X-ALD and heterozygote females from individuals not affected with a peroxisomal disorder, we calculated Moser's discriminant function based on data from a 1999 study (Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, et al. Plasma very long chain fatty acids in 3000 peroixome disease patients and 29,000 controls. Ann Neurol. 1999:45(1):100-10)
Final discriminant function cut-off values from this published study are 7.5 and 5.0 for male and female patients, respectively.
In our experience, we have observed hemizygote discriminant functions up to 9.0 in males and heterozygote discriminant functions up to 8.0 in females in the normal population. All results should be evaluated in conjunction with other clinical information.