title: Lactate and pyruvate levels in blood and cerebrospinal fluid in patients with Menkes disease.
abstract: OBJECTIVE
  To examine levels of lactate (LA) and pyruvate (PA) in both blood and cerebrospinal fluid (CSF) in patients with Menkes disease (MNK).
  
  
  METHODS
  A nationwide survey involving a retrospective review of medical records or medical record summaries of 42 male patients with MNK born between 1993 and 2008 were performed, and the genetic analysis of their ATP7A gene was reviewed.
  
  
  RESULTS
  In these patients, LA and PA levels and the lactate vs pyruvate ratio (L/P ratio) at diagnosis in both blood and CSF were abnormally high. There were no significant differences in LA levels, PA levels, and the L/P ratio between blood and CSF at diagnosis (P > .05). There was also no correlation between LA levels, PA levels, and the L/P ratio, and age at measurement (P > .05). There was no or slight metabolic acidosis, as analyzed by blood gas analysis, in 7 patients. During treatment with subcutaneous injections of copper-histidine, LA and PA levels and the L/P ratio in both the blood and CSF decreased.
  
  
  CONCLUSIONS
  Our findings suggest that LA and PA levels, and in particular, the L/P ratio, and blood gas analysis can be used to guide the diagnosis and management of MNK.
authors.affiliation: Department of Hygiene and Public Health, Teikyo University School of Medicine, Tokyo, Japan. Electronic address: gyh@med.teikyo-u.ac.jp.
authors.forename: Yan-Hong
authors.initials: YH
authors.lastname: Gu
authors.affiliation: Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kodama
authors.affiliation: Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: Eishin
authors.initials: E
authors.lastname: Ogawa
authors.affiliation: Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: Youichi
authors.initials: Y
authors.lastname: Izumi
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood* / Q000134:cerebrospinal fluid*; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood* / Q000134:cerebrospinal fluid*; D019289:Pyruvic Acid / Q000097:blood* / Q000134:cerebrospinal fluid*; D012189:Retrospective Studies
chemical_list: D019344:Lactic Acid; D019289:Pyruvic Acid