Biomarker for peroxisomal biogenesis disorders such as Zellweger syndrome and single enzyme defects of bile acid synthesis including D-bifunctional protein deficiency and alpha methyl CoA racemaces
Monitoring patients receiving bile acid therapy such as cholic acid for liver disease due to peroxisomal biogenesis disorders or single enzyme defects in bile acid synthesis
This is a serum test for the measurement C27 bile acids, which are a diagnostic marker for peroxisomal biogenesis disorders and single enzyme defects of bile acid synthesis including D-bifunctional protein deficiency and alpha methyl CoA racemase deficiency.
This test can also be used for monitoring of treatment efficacy.
See Bile Acid-Associated Tests Ordering Guide
See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Peroxisomal Disorder
Peroxisomal Biogenesis Disorder
D-bifunctional protein deficiency
Alpha methyl-CoA racemase deficiency
Bile acids
C27 bile acids
Dihydroxycholestanoic acid
Trihydroxycholestanoic acid
Total Cholic acid
Total Chenodeoxycholic acid
Total Ursodeoxycholic acid
Total bile acids
Zellweger Syndrome
See Bile Acid-Associated Tests Ordering Guide
See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Serum
For assessment of general liver dysfunction in adults or diagnosis or monitoring of intrahepatic cholestasis of pregnancy, order BAFS / Bile Acids, Fractionated and Total, Serum.
Patient Preparation: Patient must be fasting for 12 to 14 hours.
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
0.3 mL
Gross hemolysis | OK |
Gross lipemia | OK |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Serum | Refrigerated (preferred) | 90 days | |
Ambient | 90 days | ||
Frozen | 90 days |
Biomarker for peroxisomal biogenesis disorders such as Zellweger syndrome and single enzyme defects of bile acid synthesis including D-bifunctional protein deficiency and alpha methyl CoA racemaces
Monitoring patients receiving bile acid therapy such as cholic acid for liver disease due to peroxisomal biogenesis disorders or single enzyme defects in bile acid synthesis
See Bile Acid-Associated Tests Ordering Guide
See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Bile acids are formed in the liver from cholesterol, conjugated primarily to glycine and taurine, stored and concentrated in the gallbladder, and secreted into the intestine after the ingestion of a meal. In the intestinal lumen, the bile acids serve to emulsify ingested fats and thereby promote digestion. During the absorptive phase of digestion, approximately 90% of the bile acids are reabsorbed.
The efficiency of the hepatic clearance of bile acids from portal blood maintains serum concentrations at low levels in normal persons. An elevated fasting level, due to impaired hepatic clearance, is a sensitive indicator of liver disease. Following meals, serum bile acid levels have been shown to increase only slightly in normal persons, but markedly in patients with various liver diseases, including cirrhosis, hepatitis, cholestasis, portal-vein thrombosis, Budd-Chiari syndrome, cholangitis, Wilson disease, and hemochromatosis. No increase in bile acids will be noted in patients with intestinal malabsorption. Metabolic hepatic disorders involving organic anions (eg, Gilbert disease, Crigler-Najjar syndrome, and Dubin-Johnson syndrome) do not cause abnormal serum bile acid concentrations.
Dihydroxycholestanoic acid < or =0.10
Trihydroxycholestanoic acid < or =1.30
Total cholic acid < or =5.00
Total chenodeoxycholic acid < or =6.00
Total ursodeoxycholic acid < or =2.00
Total bile acids < or =19.00
Increases in serum C27 bile acids are seen in patients with peroxisomal biogenesis disorders such as Zellweger syndrome or single enzyme defects of bile acid synthesis such as D-bifunctional protein deficiency and alpha methyl CoA racemaces. Total bile acids are metabolized in the liver and can serve as a marker for normal liver function. The values of 2 bile acid precursors, dihydroxycholestanoic acid and trihydroxycholestanoic acid, will be reported, along with total cholic acid, total chenodeoxycholic acid, total ursodeoxycholic acid, and total bile acids. No interpretive report will be provided.
Bile acid concentrations in serum may be elevated postmeal and due to bile acid therapy, such as cholic acid, deoxycholic acid, and ursodeoxycholic acid.
1. Johnson DW, ten Brink HJ, Schuit RC, Jakobs C: Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry. J Lipid Res. 2001 Jan;42(1):9-16
2. Bootsma AH, Overmars H, Van Rooij A, et al: Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis. 1999 May;22(3):307-310
3. Ferdinandusse S, Jimenez-Sanchez G, Koster J, et al: A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-370
4. Heubi JE, Setchell KDR, Bove KE: Inborn errors of bile acid metabolism. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006
5. Sundaram SS, Bove KE, Lovell MA, Sokol RJ: Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-468
6. Wanders RJA, Rizzo WB: Inborn errors of peroxisome biogenesis and function. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill Medical Division; 2017:427-446
7. Fischler B, Eggersten G, Bjorkhem I: Genetic Defects in Synthesis and Transport of Bile Acids. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw-Hill Medical Division; 2017:447-460
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
82542
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
BAIPD | Bile Acids for Peroxisomal D/O, S | 43130-4 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
41446 | Dihydroxycholestanoic Acid | 53479-2 |
41447 | Trihydroxycholestanoic Acid | 38188-9 |
41448 | Total Cholic Acid | 30518-5 |
41449 | Total Chenodeoxycholic Acid | 30519-3 |
41450 | Total Ursodeoxycholic Acid | 55159-8 |
41451 | Total Bile Acids | 14628-2 |