Differential diagnosis in patients with suspected bile acid synthesis defects

Table 3 Peak area ratios of specific glycine and taurine conjugates in controls, patients with cholestatic liver disease (cholestasis) and patients AS and MK with suspected 5β-reductase deficiency

Metabolite	m/z	Controls(n = 100)	Cholestasis(n = 10)	AS	MK	MK1
Glyco-hydroxy-oxo-cholenoic acid	444	0-0.4	1-210	34	104	14
Glyco-dihydroxy-oxo-cholenoic acid	460	0-2.4	8-251	15	1331	1
Tauro-hydroxy-oxo-cholenoic acid	494	0-0.5	1-26	39	6	17
Tauro-dihydroxy-oxo-cholenoic acid	510	0-5	8-133	19	779	0
Glyco-chenodeoxy-cholic acid	448	0-5.2	2-10  754	4	9	25
Glyco-cholic acid	464	0.1-14.6	36-2814	17	49	47
Tauro-chenodeoxy-cholic acid	498	0-0.8	1-718	9	45	10
Tauro-cholic acid	514	0-8.4	6-749	9	10	1

Elevation of glycine and taurine conjugates of dihydroxy-oxo-cholenoic acid (m/z 460 and 510) and hydroxy-oxo-cholenoic acid (m/z 444 and 494) point to 3β-HSD. Elevation of glycine and taurine conjugates of cholic acid (m/z 448 and 464) and chenodeoxycholic acid (m/z 498 and 514) point to cholestatic liver disease. In patient AS, 5β-reductase and 3β-hydroxy-Δ⁵-C₂₇-steroid dehydrogenase deficiency were excluded by mutation analysis. The cholanoid profiles of patient MK with cystic fibrosis are in a decompensated state with severe cholestatic liver disease and

¹after treatment with ursodeoxycholic acid, pancreatic enzymes and fat-soluble vitamins.