Review for 10.1186/s12876-018-0827-6 (2018)

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  
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No 
 
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