Publication Name	World Journal of Clinical Cases
Manuscript ID	52699
Country	China

Category	Cardiac & Cardiovascular Systems
Manuscript Type	Case Report
Article Title	Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Hong-Yu Liao, Xiao-Qing Shi and Yi-Fei Li
Funding Agency and Grant Number
Corresponding Author	Yi-Fei Li, MD, Associate Professor, Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu 610041, Sichuan Province, China. liyfwcsh@scu.edu.cn
Key Words	Pulmonary hypertension; Methylmalonic acidemia; Genomic sequence; Metabolic disorder; Case report;
Core Tip	This report describes a case who suffered an aggressive pulmonary hypertension (PH) as her first onset manifestation. Following the routine diagnostic and therapeutic procedure, we failed to address any abnormalities which could explain the origins of PH. However, taking the advantage of metabolic screening and genome sequencing, we achieved the diagnosis of methylmalonic acidemia and revealed that the severe PH is secondary to methylmalonic acidemia, which was not mentioned among several guidelines of PH. Although metabolic and genome screenings have been recommended in guideline, this case brought our reconsideration to the timing for perform metabolic and genomic screenings. So that, we would like to mention that for some aggressive unexplained PH patients who meets the criteria, such screening procedure should be applied in an earlier stage to prevent putting the patients into irreversible conditions.
Citation	Liao HY, Shi XQ, Li YF. Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report. World J Clin Cases 2020; 8(6): 1137-1141

Received	2019-11-14 03:58
Peer-Review Started	2019-11-14 03:59
To Make the First Decision
Return for Revision	2019-12-23 17:39
Revised	2019-12-31 05:09
Second Decision	2020-01-18 10:10
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2020-01-18 18:59
Articles in Press	2020-01-18 18:59
Publication Fee Transferred
Edit the Manuscript by Language Editor	2020-03-10 10:02
Typeset the Manuscript	2020-03-23 02:12

ISSN	2307-8960 (online)
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