Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report.

Autor:	Li XX; State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau 999078, China. sitalisa@163.com., Yang XN; State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau 999078, China., Pan HD; State Key Laboratory of Traditional Chinese Medicine Syndrome, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510006, Guangdong Province, China., Liu L; State Key Laboratory of Traditional Chinese Medicine Syndrome, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510006, Guangdong Province, China.
Jazyk:	angličtina
Zdroj:	World journal of clinical cases [World J Clin Cases] 2024 Aug 16; Vol. 12 (23), pp. 5422-5430.
DOI:	10.12998/wjcc.v12.i23.5422
Abstrakt:	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. Competing Interests: Conflict-of-interest statement: The authors report no relevant conflicts of interest for this article. (©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.)
Databáze:	MEDLINE
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