Reviewer ’s report  
Title: A novel homozygous mutation in the glycerol -3-phosphate dehydrogenase 1 gene in a 
Chinese patient with transient infantile hypertriglyceridemia: a case report  
 
Version: 0 Date: 06 Apr 2018  
 
Reviewer: Andreas Maieron  
 
Reviewer's report:  
I read with interest the case report from Jia -Qi Li et al. . The paper is  well written and presents 
the first description of a novel mutation of a child with HTGTI in the GPD1 gene. Although for 
sure this is a rare disease it seems of interest to get deeper insight into the genetic background 
and the pathophysiological concept,  therefore the case should be published. For me as a clinician 
it would be very helpful to get advice from the authors under which circumstances one should 
think about genetic testing for HTGTI.  
As the natural history of HTGTI seems unclear yet, what is th e recommendation to follow up 
these patients? Please advise us.  
Looking at table 2  - what is the explanation from the authors for the extremely wide range of TG 
levels (normal - to > 6000mg%)  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
Yes 
Does the work include the necessary controls?  
If not, please specify which controls are  required in your comments to the authors.  
Yes 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
Yes 
Are you able to assess any statistics in the manuscript or would you r ecommend an 
additional statistical review?  
If an additional statistical review is recommended, please speci fy what aspects require further 
assessment in your comments to the editors.  
I am able to assess the statistics  
Quality of written English  
Please indicat e the quality of language in the manuscript:  
Acceptable  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
1. Have you in the past five years received reimbursements, fees, funding,  or salary from an  
organisation that may in any way gain or lose financial ly from the publication of this 
manuscript, either now or in the future?  
2. Do you hold any stocks or shares in an organisation t hat may in any way gain or lose 
financially from the publication of this manuscript, either now or in the future?  
3. Do you hold or are you currently applying for any patents  relating to the content of the 
manuscript?  
4. Have you received reimb ursements, fees, funding, or salary from an organization that 
holds or has applied for patents relating to the content of the manuscript?  
5. Do you have any other financial competing interests?  
6. Do you have any non -financial competing interests in relati on to this paper?  
If you can answer no to all of the above, write 'I d eclare that I have no competing interests' 
below. If your reply is yes to any, please give details below.  
 
No 
 
I agree to the open peer review policy of the journal. I understand that my name will be included 
on my report to the authors and, if the manuscript  is accepted for publication, my named report 
including any attachments I upload will be posted on the website along with the authors' 
responses. I agree for my report to be made available under an Open Access Creative Commons 
CC-BY license ( http://creativ ecommons.org/licenses/by/4.0/ ). I understand that any comments 
which I do not wish to be included in my named report can be included as confidential comments 
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Reviewer ’s report  
Title: A novel homozygous mutation in the glycerol -3-phosphate dehydrogenase 1 gene in a 
Chinese patient with transient infantile hypertriglyceridemia: a case report  
 
Version: 0 Date: 06 Apr 2018  
 
Reviewer: Andreas Maieron  
 
Reviewer's report:  
I read with interest the case report from Jia -Qi Li et al. . The paper is  well written and presents 
the first description of a novel mutation of a child with HTGTI in the GPD1 gene. Although for 
sure this is a rare disease it seems of interest to get deeper insight into the genetic background 
and the pathophysiological concept,  therefore the case should be published. For me as a clinician 
it would be very helpful to get advice from the authors under which circumstances one should 
think about genetic testing for HTGTI.  
As the natural history of HTGTI seems unclear yet, what is th e recommendation to follow up 
these patients? Please advise us.  
Looking at table 2  - what is the explanation from the authors for the extremely wide range of TG 
levels (normal - to > 6000mg%)  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
Yes 
Does the work include the necessary controls?  
If not, please specify which controls are  required in your comments to the authors.  
Yes 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
Yes 
Are you able to assess any statistics in the manuscript or would you r ecommend an 
additional statistical review?  
If an additional statistical review is recommended, please speci fy what aspects require further 
assessment in your comments to the editors.  
I am able to assess the statistics  
Quality of written English  
Please indicat e the quality of language in the manuscript:  
Acceptable  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
1. Have you in the past five years received reimbursements, fees, funding,  or salary from an  
organisation that may in any way gain or lose financial ly from the publication of this 
manuscript, either now or in the future?  
2. Do you hold any stocks or shares in an organisation t hat may in any way gain or lose 
financially from the publication of this manuscript, either now or in the future?  
3. Do you hold or are you currently applying for any patents  relating to the content of the 
manuscript?  
4. Have you received reimb ursements, fees, funding, or salary from an organization that 
holds or has applied for patents relating to the content of the manuscript?  
5. Do you have any other financial competing interests?  
6. Do you have any non -financial competing interests in relati on to this paper?  
If you can answer no to all of the above, write 'I d eclare that I have no competing interests' 
below. If your reply is yes to any, please give details below.  
 
No 
 
I agree to the open peer review policy of the journal. I understand that my name will be included 
on my report to the authors and, if the manuscript  is accepted for publication, my named report 
including any attachments I upload will be posted on the website along with the authors' 
responses. I agree for my report to be made available under an Open Access Creative Commons 
CC-BY license ( http://creativ ecommons.org/licenses/by/4.0/ ). I understand that any comments 
which I do not wish to be included in my named report can be included as confidential comments 
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Please review this paper.
user
Reviewer ’s report  
Title: A novel homozygous mutation in the glycerol -3-phosphate dehydrogenase 1 gene in a 
Chinese patient with transient infantile hypertriglyceridemia: a case report  
 
Version: 0 Date: 06 Apr 2018  
 
Reviewer: Andreas Maieron  
 
Reviewer's report:  
I read with interest the case report from Jia -Qi Li et al. . The paper is  well written and presents 
the first description of a novel mutation of a child with HTGTI in the GPD1 gene. Although for 
sure this is a rare disease it seems of interest to get deeper insight into the genetic background 
and the pathophysiological concept,  therefore the case should be published. For me as a clinician 
it would be very helpful to get advice from the authors under which circumstances one should 
think about genetic testing for HTGTI.  
As the natural history of HTGTI seems unclear yet, what is th e recommendation to follow up 
these patients? Please advise us.  
Looking at table 2  - what is the explanation from the authors for the extremely wide range of TG 
levels (normal - to > 6000mg%)  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
Yes 
Does the work include the necessary controls?  
If not, please specify which controls are  required in your comments to the authors.  
Yes 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
Yes 
Are you able to assess any statistics in the manuscript or would you r ecommend an 
additional statistical review?  
If an additional statistical review is recommended, please speci fy what aspects require further 
assessment in your comments to the editors.  
I am able to assess the statistics  
Quality of written English  
Please indicat e the quality of language in the manuscript:  
Acceptable  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
1. Have you in the past five years received reimbursements, fees, funding,  or salary from an  
organisation that may in any way gain or lose financial ly from the publication of this 
manuscript, either now or in the future?  
2. Do you hold any stocks or shares in an organisation t hat may in any way gain or lose 
financially from the publication of this manuscript, either now or in the future?  
3. Do you hold or are you currently applying for any patents  relating to the content of the 
manuscript?  
4. Have you received reimb ursements, fees, funding, or salary from an organization that 
holds or has applied for patents relating to the content of the manuscript?  
5. Do you have any other financial competing interests?  
6. Do you have any non -financial competing interests in relati on to this paper?  
If you can answer no to all of the above, write 'I d eclare that I have no competing interests' 
below. If your reply is yes to any, please give details below.  
 
No 
 
I agree to the open peer review policy of the journal. I understand that my name will be included 
on my report to the authors and, if the manuscript  is accepted for publication, my named report 
including any attachments I upload will be posted on the website along with the authors' 
responses. I agree for my report to be made available under an Open Access Creative Commons 
CC-BY license ( http://creativ ecommons.org/licenses/by/4.0/ ). I understand that any comments 
which I do not wish to be included in my named report can be included as confidential comments 
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
assistant