title: Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase.
abstract: We report a case of a 37 year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. Then, restriction of carbohydrates for a diet made his symptoms rapidly deteriorate. Blood test revealed compound heterozygosity for two novel missense mutations in the electron transfer flavoprotein dehydrogenase gene (ETFDH), and an abnormal LDH isoenzyme pattern: LDH-1 (60.0%) and LDH-2 (26.0%) predominated with abnormally elevated LDH-1/LDH-2 ratio (2.3), compared with muscle-derived LDH-5 (4.0%). Oral riboflavin treatment significantly improved his exercise intolerance and the LDH profile: LDH-1 (34.4%), LDH-2 (34.9%), LDH-5 (6.9%) and LDH-1/LDH-2 ratio (1.0). The abnormal LDH isoenzyme pattern may be one feature of adult-onset MADD selectively affecting type I muscle fibers with relatively high LDH-1 content.
authors: Department of Neurology, Otemae Hospital, Chuo-ku, Osaka, Japan. sugai1441@otemae.gr.jp
authors: Fuminobu
authors: F
authors: Sugai
authors: Kousuke
authors: K
authors: Baba
authors: Keiko
authors: K
authors: Toyooka
authors: Wen-Chen
authors: WC
authors: Liang
authors: Ichizo
authors: I
authors: Nishino
authors: Misaki
authors: M
authors: Yamadera
authors: Hisae
authors: H
authors: Sumi
authors: Harutoshi
authors: H
authors: Fujimura
authors: Yoshiro
authors: Y
authors: Nishikawa
mesh_terms: D000328:Adult; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D007770:L-Lactate Dehydrogenase / Q000097:blood*; D000080864:Lactate Dehydrogenase 5; D008297:Male; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D012256:Riboflavin / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; C409676:lactate dehydrogenase 2; D000080864:Lactate Dehydrogenase 5; C409667:lactate dehydrogenase 1; D012256:Riboflavin