所属 埼玉医科大学 医学部 総合医療センター 小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター） 職種 教授
|Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
|ELSEVIER SCIENCE INC
|Seigo Korematsu,Yujiro Kosugi,Toshihide Kumamoto,Seiji Yamaguchi,Tatsuro Izumi
|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 y