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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China

Fig. 3

The negative ion FAB-MS spectrum of the urine for: A a patient with HSD3B7 deficiency revealing marked elevations in sulfate and glyco-sulfate conjugates of dihydroxy- and trihydroxy-cholenoic acids (i.e. unsaturated C24 bile acids) evidenced by the pairs of ions at m/z 469, 485 (sulfate conjugates) and m/z 526, 542 (glyco-sulfate conjugates) and B the mass spectrum of the urine from patient 21 which shows low intensity ions for these atypical 3β-hydroxy-Δ5 bile acid that are the biomarkers for HSD3B7 deficiency due to the more advanced liver disease and loss of synthetic function

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