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Test ID: BAIPD Bile Acids for Peroxisomal Disorders, Serum

Useful For

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

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Bile Acids for Peroxisomal D/O, S

Specimen Type

Serum


Advisory Information


Do not use for assessment of general liver dysfunction in adults or diagnosis or monitoring of intrahepatic cholestasis of pregnancy (see BAFS / Bile Acids, Fractionated and Total, Serum).



Specimen Required


Patient Preparation: Patient must be fasting for 12-14 hours.

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions: See Bile Acid-Associated Tests Ordering Guide in Special Instructions.


Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Refrigerated (preferred) 90 days
  Ambient  90 days
  Frozen  90 days

Clinical Information

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

Dihydroxycholestanoic Acid ≤0.10 nmol/mL

Trihydroxycholestanoic Acid ≤1.30 nmol/mL

Total Cholic Acid ≤5.00 nmol/mL

Total Chenodeoxycholic Acid ≤6.00 nmol/mL

Total Ursodeoxycholic Acid ≤2.00 nmol/mL

Total Bile Acids ≤19.00 nmol/mL

Interpretation

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.

Clinical Reference

1. Johnson DW, Brink HJ, Schuit RC, et al: Rapid and quantitative analysis of unconjugated C27 bile acids in plasma and blood samples by tandem mass spectrometry. Journ Lipid Res 2001;42:9-16

2. Bootsma AH, Overmars H, Van Rooiji A, et al: Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders. J Inher Metab Dis 1999;22:307-310

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;24:361-370

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

5. Sundaram SS, Bove KE, Lovell MA, Sokol RJ: Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol 2008;5(8):456-468

6. Wanders RJA: Inborn Errors of Peroxisome Biogenesis and Function. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, NY, McGraw-Hill Medical Division, 2009, pp 323-337

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

Analytic Time

2 days (not reported on Saturday or Sunday)

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BAIPD Bile Acids for Peroxisomal D/O, S In Process

 

Result ID Test Result Name Result LOINC Value
41446 Dihydroxycholestanoic Acid 53479-2
41447 Trihydroxycholestanoic Acid In Process
41448 Total Cholic Acid 30518-5
41449 Total Chenodeoxycholic Acid 30519-3
41450 Total Ursodeoxycholic Acid 55159-8
41451 Total Bile Acids 14628-2

Testing Algorithm

See Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical