title: [Clinical manifestations of three neonates with family histories of Menkes disease].
abstract: OBJECTIVE
  To examine indications for the early diagnosis of Menkes disease (MD).
  
  
  METHODS
  We compared clinical examination results of 3 neonate males with family histories of MD who were at risk of being affected (1 infant was affected and 2 were unaffected).
  
  
  RESULTS
  Kinky hair, a characteristic shown by MD patients, was observed just after birth in the affected infant; however, this characteristic was extremely mild and easy to miss. In the first month after birth, serum copper level declined over time in the affected infant,while it increased in the unaffected infants. Urine homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio, which is typically high in MD patients, was observed to be 4.9-8.0 (cut-off, 4.0) in the affected infant. In the unaffected infants, the urine HVA/MVA ratio showed a high value of 11.0 during catecholamine administration, but this decreased to below the cut-off value when catecholamine was not administered.
  
  
  CONCLUSIONS
  Variations in the serum copper level and urine HVA/VMA ratio over time were considered as useful indicators for the early diagnosis of MD.
authors.forename: Mariko
authors.initials: M
authors.lastname: Yagi
authors.forename: Noriko
authors.initials: N
authors.lastname: Kusunoki
authors.forename: Tomoko
authors.initials: T
authors.lastname: Lee
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Awano
authors.forename: Ichiro
authors.initials: I
authors.lastname: Morioka
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kodama
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
mesh_terms: D002675:Child, Preschool; D042241:Early Diagnosis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D014642:Vanilmandelic Acid / Q000031:analogs & derivatives* / Q000652:urine*
chemical_list: D014642:Vanilmandelic Acid; D006719:Homovanillic Acid