title: Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
abstract: A male neonate demonstrated fetal distress, neonatal asphyxia, and transient hyper-creatine kinase-emia (8400IU/L), followed by repeated episodes of rhabdomyolysis 1-2 times/year during infancy and early childhood. At age 6 years, decreased levels of total and free carnitine in serum, and mild fiber size variation and increased fatty droplets in muscle, were confirmed. Both blood and serum fatty-acid analysis demonstrated elevated 5-tetradecenoate levels, and the acyl-CoA dehydrogenase activity of the palmitoyl-CoA/octanoyl-CoA ratio decreased in skin fibroblasts. The sequenced clone analysis of a complimentary DNA fragment revealed a compound heterozygote mutation of exon 9 (A790G) and exon 10 (997 ins T), which is a novel mutation of a myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency. The patient has reached age 13 years. By treatment with an avoidance of fasting, feeding with a high-carbohydrate and low-fat diet, and intravenous drip infusion soon after every onset of rhabdomyolysis, his physical and mental development has stayed within the normal range. Patients with a perinatal onset of myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency have not yet been reported. His novel mutation might be related to his clinical characterization.
authors: Department of Pediatrics and Child Neurology, Faculty of Medicine, Oita University, Oita, Japan. kseigo@med.oita-u.ac.jp
authors: Seigo
authors: S
authors: Korematsu
authors: Yujiro
authors: Y
authors: Kosugi
authors: Toshihide
authors: T
authors: Kumamoto
authors: Seiji
authors: S
authors: Yamaguchi
authors: Tatsuro
authors: T
authors: Izumi
mesh_terms: D000214:Acyl Coenzyme A / Q000378:metabolism; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics*; D017668:Age of Onset; D002331:Carnitine / Q000097:blood; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics* / Q000628:therapy; D009132:Muscles / Q000473:pathology; D009154:Mutation; D010171:Palmitoyl Coenzyme A / Q000378:metabolism; D012206:Rhabdomyolysis / Q000097:blood; D012867:Skin / Q000201:enzymology; D016896:Treatment Outcome
chemical_list: D000214:Acyl Coenzyme A; C034681:octanoyl-coenzyme A; D010171:Palmitoyl Coenzyme A; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine