Review for 10.1186/s12876-021-01749-x (2021)

Reviewer’s report
Title: 
Successful Treatment of Infantile Oxysterol 7
α
-hydroxylase Deficiency
with Oral Chenodeoxycholic Acid
Version: 
0 
Date: 
04 Dec 2020
Reviewer's report:
Tang Y-P et al. reported cases of siblings with oxysterol 7
α
-hydroxylase
(CYP7B1) deficiency having the same gene mutation. One patient was an
infantile patient with severe cholestasis and improved with CDCA therapy.
Another patient is a 15-year-old man diagnosed with SPG5. I think these two
patients are very interesting cases to be reported in this journal.
However, there are minor problems as described below.
1. Abstract P1, line 46. Isn't 10 months of age a mistake of 9 months of age?
2. Background P2, line 2. All CBAS in the text should be unified to CBASD
(congenial bile acid synthesis disorder).
3. Case presentation P2, line 34. Please enter 2.92 * 10 ^ 3copies/ml correctly.
4. Case presentation P2, line 59. Questions about Table 1. You can see that the
5mon-7days item is under UDCA therapy. Also, 5mon-10days is known to have
not been administered UDCA. However, I do not know when I started to
administer CDCA. Is it only during 9mon-17days during CDCA therapy?
5. Case presentation P3, line 18. It says "One week later, her liver function
improved and… ..", but as far as Table 1 is concerned, it doesn't seem to have
improved. You should show it. Why is the value of 
γ
-GT showing a high value
after 5mon-26days?
6. Case presentation P3, line 27-54. As a result of bile acid analysis without
UDCA administration, what are the actual values of 3
β
-monohydroxy-
Δ
5-bile
acid and 3
β
-hydroxy-5-cholestenoic acid and what is the ratio to total bile acids?
Also, what are the measurement results after 4 months of CDCA therapy? As the
author commented, looking at Figure 2, Fig.2-B seems to have a higher amount
of unusual bile acids than Fig.2-A. Why is this? Is there no therapeutic effect? Or
is there any other reason? Why wasn't the measured value analyzed by GC-MS
after diagnosis by FAB-MS analysis? The question remains.
7. Case presentationFrom line 56 on page 3 to line 22 on page 4. I think this is
the important part of this report. Certainly, there should be no reports of brothers
and sisters with different clinical symptoms due to the same genetic mutation in
the disease. The authors have a little description in the discussion about why this
is so, but please elaborate a little more. Also, how was the analysis result of
oxysterol ( such as, 25- and 27-hydroxycholesterol)?
8. The authors should summarize the first paragraph of Discussion a little
shorter. 
9. In Table 2, the items are too close to each other and are difficult to see. Please
remake it.
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