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KMID : 0918520220220010021
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Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No. 1 p.21 ~ p.27
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Very Long Chain Acyl-coenzyme A Dehydrogenase Deficiency: A Review of Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment
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Kang Seok-Jin
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Abstract
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Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (VLCADD) leads to a defective β- oxidation, specifically during prolonged fasting, infection, or exercise. Patients with VLCADD usually suffer from cardiomyopathy, hypoketotic hypoglycemia, hepatic dysfunction, exercise intolerance, muscle pain, and rhabdomyolysis, and sometimes succumb to sudden death. VLCADD is generally classified into three phenotypes: severe early-onset cardiac and multiorgan failure, hypoketotic hypoglycemia, and later-onset episodic myopathy. Diagnostic evaluation comprises acylcarnitine analysis, genetic analysis, and VLCAD activity assay. In the acylcarnitine analysis, the key metabolites are C14:1, C14:2, C14, and C12:1. A C14:1 level >1 mmol/L strongly suggests VLCADD. Various treatment recommendations are available for this condition. Dietary management includes decreasing fat content, increasing mediumchain triglyceride levels, and decreasing fasting periods. Supplementation with L-carnitine is controversial. Triheptanoin (a seven-carbon fatty acid triglyceride) treatment demonstrates improvement of cardiac functions. Bezafibrate may improve the quality of life of patients with VLCAD.
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KEYWORD
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Acy-CoA dehydrogenase, Cardiomyopathies, Hypoglycemia, Bezafibrate, Tetradecanoycar- nitine, Triheptanoin
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