title: Serum Enzyme Profiles Differentiate Five Types of Muscular Dystrophy.
abstract: BACKGROUND
  Differentiation among types of muscular dystrophy (MD) has remained challenging. In this retrospective study, we sought to develop a methodology for differentiation of MD types using analysis of serum enzyme profiles.
  
  
  METHODS
  The serum levels of enzymes from 232 patients, including 120 with DMD, 36 with BMD, 36 with FSHD, 46 with LGMD, and 11 with EDMD, were evaluated.
  
  
  RESULTS
  The characteristic profiles of serum enzymes facilitated differentiation of these five types of MD. DMD was characterized by simultaneous elevation of ALT, AST, LDH, and ALP; BMD and LGMD were characterized by elevation of ALT, AST, and LDH; and FSHD and EDMD were characterized by a lack of abnormal serum enzyme levels. We further developed discriminant functions to distinguish BMD and LGMD. For LGMD, LGMD2B patients had significantly higher ALP levels than non-LGMD2B patients (98 ± 59 U/L versus 45 ± 9 U/L, resp., p < 0.05).
  
  
  CONCLUSIONS
  Our approach enabled the determination of MD subtypes using serum enzyme profiles prior to genetic testing, which will increase the chance a mutation will be found in the first gene analyzed.
authors.affiliation: Department of Anatomy and Neurobiology, Zhongshan School of Medicine, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Yuling
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Huili
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Healthcare Clinic, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Laboratory Medicine, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Langhui
authors.initials: L
authors.lastname: Deng
authors.affiliation: Department of Epidemiology and Health Statistics, School of Public Health, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Xingxuan
authors.initials: X
authors.lastname: Wen
authors.affiliation: Department of Anatomy and Neurobiology, Zhongshan School of Medicine, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Huaqiao
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou 510080, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
mesh_terms: D000410:Alanine Transaminase / Q000097:blood*; D001219:Aspartate Aminotransferases / Q000097:blood*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood*; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood / Q000145:classification* / Q000201:enzymology*; D012189:Retrospective Studies
chemical_list: D007770:L-Lactate Dehydrogenase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase