case_images: PMC5649119_01
case_images: Graphs of hepatic function parameters from Case 1 as patient transitioned from ursodeoxycholic acid (UDCA) to cholic acid (CA) therapy.. Note post-CA increases in bilirubin, transaminases, and total plasma cholesterol, which paralleled deterioration of the patients' clinical status.
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case_images: f1
case_images: Her stable pre-CA elevation in transaminase and bilirubin levels began to increase 7 days after initiation of CA, and continued to increase (See Figure 1 and Figure 2). She remained on CA therapy for a total of 37 days; due to worsening of clinical and laboratory parameters and no mutations identified in HSD3B7, CA was discontinued and UDCA restarted at 30 mg/kg/day ( Figure 1 and Figure 2).
case_images: Boxplots of hepatic function parameters from Case 1.. These indicate statistically significant (Student's T-test, performed with Rv3.2.0: *, p < 0.05; **, p < 0.005) elevations in all denoted parameters except alkaline phosphatase, while on cholic acid (CA) compared to ursodeoxycholic acid (UDCA) therapy.
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case_images: PMC5649119_01_wellcomeopenres-2-12809-g0001.jpg
case_images: f2
case_images: Her stable pre-CA elevation in transaminase and bilirubin levels began to increase 7 days after initiation of CA, and continued to increase (See Figure 1 and Figure 2). She remained on CA therapy for a total of 37 days; due to worsening of clinical and laboratory parameters and no mutations identified in HSD3B7, CA was discontinued and UDCA restarted at 30 mg/kg/day ( Figure 1 and Figure 2).
case_images: PMC5649119_02
case_images: Graph of hepatic function parameters from Case 2 in the months before and after starting ursodeoxycholic acid (UDCA).. This demonstrated a marked improvement in liver function parameters.
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case_images: PMC5649119_02_wellcomeopenres-2-12809-g0002.jpg
case_images: f3
case_images: At review 1 month later there was a significant improvement in liver function tests (total bilirubin 0.5 mg/dl; ALT 20 U/L; AST 54 U/l; GGT 62 U/l), this improvement was sustained when further tested aged 18 months and 2 years ( Figure 3).
case_images: Alanine transaminase (ALT) of Case 3.. This demonstrated abnormal levels before starting ursodeoxycholic acid (UDCA) that normalized following initiation of UDCA. Dotted line signifies normal value (less than 50 units/L)
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case_images: f4
case_images: After commencing UDCA, the persistently elevated ALT levels returned to normal range (ALT 48 U/l, RR<50 U/l) and this has been maintained for over 2 and a half years ( Figure 4).
case_images: NIH scoring in Case 3.. (
  a) Total NIH score (without hearing and auditory brainstem response) for Case 3. Time of ursodeoxycholic acid (UDCA) commencement (6.67 yrs) marked on graph. (
  b) NIH severity scale scores in the four key domains (Ambulation, Fine motor, Swallow and Cognition) for Case 3, both before and after commencement of UDCA.
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case_images: f5
case_images: Ambulation, by only a single point ( Figures 5a and b). At 8 years 4 months he was enrolled on the VTS-270 clinical study .