Li XX, Yang XN, Pan HD, Liu L. Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report. World J Clin Cases 2024; 12(23): 5422-5430 [DOI: 10.12998/wjcc.v12.i23.5422]
Corresponding Author of This Article
Xue-Xia Li, MD, Doctor, Department of Nephrology, Zhuhai Hospital of Integrated Chinese and Western Medicine, No. 208 Yuehua Road, Gongbei, Xiangzhou District, Zhuhai 519000, Guangdong Province, China. sitalisa@163.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Aug 16, 2024; 12(23): 5422-5430 Published online Aug 16, 2024. doi: 10.12998/wjcc.v12.i23.5422
Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report
Xue-Xia Li, Xiao-Nan Yang, Hu-Dan Pan, Liang Liu
Xue-Xia Li, Xiao-Nan Yang, State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau 999078, China
Hu-Dan Pan, Liang Liu, State Key Laboratory of Traditional Chinese Medicine Syndrome, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510006, Guangdong Province, China
Co-corresponding authors: Xue-Xia Li and Liang Liu.
Author contributions: Li XX analyzed the data, wrote the manuscript and revised the manuscript; Yang XN analyzed the data; Pan HD revised the manuscript; Liu L contributed to study design, paper writing and supervision.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and all accompanying images.
Conflict-of-interest statement: The authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xue-Xia Li, MD, Doctor, Department of Nephrology, Zhuhai Hospital of Integrated Chinese and Western Medicine, No. 208 Yuehua Road, Gongbei, Xiangzhou District, Zhuhai 519000, Guangdong Province, China. sitalisa@163.com
Received: April 11, 2024 Revised: May 28, 2024 Accepted: June 17, 2024 Published online: August 16, 2024 Processing time: 84 Days and 22.8 Hours
Abstract
BACKGROUND
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a disease of rare autosomal recessive disorder. There are three types of MADD. Type I is a neonatal-onset form with congenital anomalies. Type II is a neonatal-onset form without congenital anomalies. Type III is considered to a milder form and usually responds to riboflavin. However, late-onset form could also be fatal and not responsive to treatments.
CASE SUMMARY
We report a severe case of a young man with onset type III MADD induced by drugs and strenuous exercise characterized by rhabdomyolysis and liver dysfunction. Urine analysis indicated 12 out of 70 kinds of organic acids like glutaric acid-2 were detected. Serum analysis in genetic metabolic diseases revealed 24 out of 43 tested items were abnormal, revealing the elevation of several acylcarnitines and the reduction of carnitine in the patient. By next generation sequencing technology for gene sequencing related to fatty acid oxidation and carnitine cycle defects, a rare ETFDH gene variant was identified: NM_004453:4:C.1448C>T(p.Pro483 Leu). The patient was diagnosed with late-onset GAII. He was not responsive to riboflavin and progressively worsened into multiple organ failure that finally led to death.
CONCLUSION
Type III MADD can also be fatal and not responsive to treatments.
Core Tip: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a disease of rare autosomal recessive disorder of fatty acid, amino acid, and choline metabolism. Here, we report a severe case of a young man with onset type III MADD characterized by rhabdomyolysis and liver dysfunction. His urinary and serum analysis indicated organic acids, the elevation of several acylcarnitines and the reduction of carnitine. Eventually, we identified a rare compound heterozygous variant in the patient. Unfortunately, the patient was not responsive to riboflavin and his condition progressively worsened into multiple organ failure that finally led to death.
