Test ID: BAIPD    
Bile Acids for Peroxisomal Disorders, Serum

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

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

For more information, see Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids in Special Instructions.

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.

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;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

• Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
• Ordering Guide: Bile Acid-Associated Tests
• Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy