Test Catalog

Test ID: BAIPD    
Bile Acids for Peroxisomal Disorders, Serum

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.


This bile acid test for peroxisomal disorders measures levels of C27 bile acids, which are diagnostic markers for peroxisomal biogenesis disorders such as Zellweger syndrome and single enzyme defects of bile acid synthesis such as D-bifunctional protein deficiency and alpha methyl-CoA racemase deficiency. Elevated levels of C27 bile acids may enable diagnosis of peroxisomal biogenesis disorders and bile acid synthesis defects in children with liver cholestasis. Treatment for peroxisomal biogenesis disorders and bile acid synthesis defects with cholic acid is available. Measurement of C27 bile acids before and during treatment with bile acid therapy such as cholic acid can assist with monitoring of treatment efficacy.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.


Normal (nmol/mL)

Dihydroxycholestanoic acid

< or =0.10

Trihydroxycholestanoic acid

< or =1.30

Total cholic acid

< or =5.00

Total chenodeoxycholic acid

< or =6.00

Total deoxycholic acid

< or =6.00

Total ursodeoxycholic acid

< or =2.00

Total bile acids

< or =19.00









Interpretation Provides information to assist in interpretation of the test results

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.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Bile acid concentrations in serum may be elevated postmeal and due to bile acid therapy, such as cholic acid, deoxycholic acid, and ursodeoxycholic acid.

Clinical Reference Recommendations for in-depth reading of a clinical nature

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;24(2):361-370

4. Heubi JE, Setchell KDR, Bove KE: Inborn Errors of Bile Acid Metabolism. Sem Liver Dis. 2007 Aug;27(3):282-294

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: Inborn errors of peroxisome biogenesis and function. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw-Hill Medical Division; 2009:323-337

Special Instructions Library of PDFs including pertinent information and forms related to the test