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Unit Code 81939:
Fatty Acid Profile, Mitochondrial (C8-C18), Serum

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Useful For

Biochemical diagnoses inborn errors of mitochondrial fatty acid

oxidation, including deficiencies of medium-chain acyl-Co-A

dehydrogenase, long-chain 3-hydroxyacyl-Co-A dehydrogenase,

very long-chain acyl-Co-A dehydrogenase, and glutaricacidemia

type 2.

Clinical Information

This test diagnoses inborn errors of  mitochondrial fatty acid oxidation

(FAO) in patients who are unable to derive energy from fat stores and are

dependent on glucose for energy. Patients affected with FAO disorders

are at risk of sudden unexpected death, usually triggered by

hypoglycemia, accumulation of toxic metabolites, and organ failure in

response to fasting or intercurrent illnesses. This test is particularly

effective in the work-up of clinically asymptomatic patients (i.e., not

experiencing an acute episode).

 

Reference Values

Octanoic Acid, C8:0

<1 year:  7-63 umol/L

1-17 years:  9-41 umol/L

> or =18 years:  8-47 umol/L

 

Decenoic Acid, C10:1

<1 year:  0.8-4.8 umol/L

1 -17 years:  1.6-6.6 umol/L

> or =18 years:  1.8-5.0 umol/L

 

Decanoic Acid, C10:0

<1 year:  2-62 umol/L

1 -17 years:  3-25 umol/L

> or =18 years:  2-18 umol/L

 

Lauroleic Acid, C12:1

<1 year:  0.6-4.8 umol/L

1 -17 years:  1.3-5.8 umol/L

> or =18 years:  1.4-6.6 umol/L

 

Lauric Acid, C12:0

<1 year:  6-190 umol/L

1 -17 years:  5-80 umol/L

> or =18 years:  6-90 umol/L

 

Tetradecadienoic Acid, C14:2

<1 year:  0.3-6.5 umol/L

1 -17 years:  0.2-5.8 umol/L

> or =18 years:  0.8-5.0 umol/L

 

Myristoleic Acid, C14:1

<1 year:  1-46 umol/L

1 -17 years :  1-31 umol/L

> or =18 years:  3-64 umol/L

 

Myristic Acid, C14:0

<1 year:  30-320 umol/L

1 -17 years:  40-290 umol/L

> or =18 years:  30-450 umol/L

 

Hexadecadienoic Acid, C16:2

<1 year:  4-27 umol/L

1 -17 years:  3-29 umol/L

> or =18 years:  10-48 umol/L

 

Palmitoleic Acid, C16:1w7

<1 year:  20-1,020 umol/L

1 -17 years:  100-670 umol/L

> or =18 years: 110-1,130 umol/L

 

Palmitic Acid, C16:0

<1 year:  720-3,120 umol/L

1 -17 years:  960-3,460 umol/L

> or =18 years:  1,480-3,730 umol/L

 

Linoleic Acid, C18:2w6

1-31 days:  350-2,660 umol/L

32 days-11 months:  1,000-3,300 umol/L

1 -17 years:  1,600-3,500 umol/L

> or =18 years:  2,270-3,850 umol/L

 

Oleic Acid, C18:1w9

<1 year:  250-3,500 umol/L

1 -17 years:  350-3,500 umol/L

> or =18 years:  650-3,500 umol/L

 

Stearic Acid, C18:0

<1 year:  270-1,140 umol/L

1 -17 years:  280-1,170 umol/L

> or =18 years:  590-1,170 umol/L

Interpretation

FAO disorders are recognized on the basis of disease-specific

metabolite patterns that are correlated to the results of other

investigations in plasma (carnitine, acylcarnitines) and urine

(organic acids, acylglycines).

Cautions

For nutritional assessment, a 12-14 hour fast is required; however,

patients suspected of having a FAO disorder should not

fast before testing owing to the possibility of acute metabolic

decompensation. Instead, draw the specimen at the longest fast

possible, just before feeding.

Clinical Reference

1.   Stellaard F, ten Brink HJ, Kok RM et al: Stable isotope dilution analysis

      of very long chain fatty acids in plasma, urine, and amniotic fluid by

      electron capture negative ion mass fragmentography.

      Clin Chim Acta 1990;192:133-144

 

2.   ten Brink HJ, Stellaard F, van den Heuvel CM et al: Pristanic acid

      and phytanic acid in plasma from patients with peroxisomal disorders:

      stable isotope dilution analysis with electron capture negative mass

      fragmentography. J of Lipid Res 1992;33:41-47

 

3.   Rinaldo P, Matern D, Bennett MJ: Fatty acid oxidation disorders.  

      Ann  Rev Physiol 2002;64:477-502

 

Key