title: [A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis].
abstract: We experienced a 24-year-old male patient with myalgia and myoglobuinuria followed by severe exercise from childhood. In 18 years old, he had severe myaglia after a long time-night trip by bus. He was diagnosed as acute renal failure induced by rhabdomyolysis and treated with hemodialysis. In 24 years old, he was admitted to our hospital because of repeated rhabdomyolysis. We performed muscle biopsy from right quadriceps femoris, however histological and immunohistochemistological studies were normal. Ischemic forearm exercise test showed the elevation of lactic acid in serum. Therefore, we performed the analysis of acylcarnitine in serum, and the measurement of enzyme in beta-oxidation in muscle and white blood cells. These showed the lack of very-long-chain-acyl coA dehydrogenase (VLCAD) activity. He was diagnosed as skeletal muscle type VLCAD deficiency. Under the guidance of high carbohydrate and low fat diet, creatine kinase was controlled around 400 IU/l. VLCAD deficiency is important to make a differential diagnosis of young cases with recurrent elevation of creatine kinase.
authors.affiliation: Department of Neurology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan.
authors.forename: Tomonori
authors.initials: T
authors.lastname: Aoyama
authors.forename: Ikuru
authors.initials: I
authors.lastname: Yazawa
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Nobuo
authors.initials: N
authors.lastname: Sakura
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Nakase
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D012008:Recurrence; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D003402:Creatine Kinase