Publication Name	World Journal of Clinical Cases
Manuscript ID	80076
Country	China

Category	Genetics & Heredity
Manuscript Type	Case Report
Article Title	Diagnosis of an intermediate case of maple syrup urine disease: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Yun-Ting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chun-Hua Zeng, Ling Su, Min-Zhi Peng and Xiu-Zhen Li
Funding Agency and Grant Number	Funding Agency Grant Number Guangzhou Science Technology and Innovation Commission 202102020133
Corresponding Author	Xiu-Zhen Li, MM, Chief Physician, Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, No. 9 Jinsui Road, Guangzhou 510623, Guangdong, China. 13725100840@163.com
Key Words	Maple syrup urine disease; BCKDHB gene; Branched-chain amino acids; Metabolic profiling; Genetic analysis; Case report
Core Tip	Clinical and metabolic screening is limited in identifying all patients with maple syrup urine disease (MSUD), especially those patients with mild phenotypes or are asymptomatic. Here we present the diagnostic process of an intermediate MSUD case with a mild phenotype, who was missed by metabolic profiling but identified by genetic analysis. This case suggests that genetic testing could contribute to the identification of non-classic mild MSUD cases and alerts clinicians to avoid missing these patients.
Citation	Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, Peng MZ, Li XZ. Diagnosis of an intermediate case of maple syrup urine disease: A case report. World J Clin Cases 2023; 11(5): 1077-1085

Received	2022-09-20 07:00
Peer-Review Started	2022-09-20 07:04
To Make the First Decision
Return for Revision	2022-11-30 07:33
Revised	2022-12-12 12:32
Second Decision	2023-01-18 03:05
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2023-01-19 02:44
Articles in Press	2023-01-19 02:44
Publication Fee Transferred
Edit the Manuscript by Language Editor	2023-01-12 05:42
Typeset the Manuscript	2023-02-03 06:47

ISSN	2307-8960 (online)
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