title: Menkes disease and response to copper histidine: An Indian case series.
abstract: BACKGROUND
  Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations inATP7Agene. Depending on the residualATP7Aactivity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy. This series also includes a female with X-13 translocation manifesting neurological symptoms.
  
  
  METHODS
  The clinical profile, laboratory and radiological data, and follow-up of four children with MD were collected from the hospital database and are being presented.
  
  
  RESULTS
  All the four children in our series had developmental delay, recurrent respiratory tract infections, hair and skeletal changes, axial hypotonia, tortuous vessels on imaging, low serum copper, ceruloplasmin, and elevated lactate. Fetal hypokinesia and fetal growth retardation were present in two cases. Failure to thrive was present in three children and only one child had epilepsy. Subcutaneous copper histidine was administered to all children. The average time lapse in the initiation of treatment was 20.3 months, and average duration of follow-up was 14.3 months.
  
  
  CONCLUSIONS
  We conclude that copper histidine therapy is beneficial in reversing the skin and hair changes, improving appendicular tone, socio-cognitive milestones, and improving weight gain, and immunity. Early diagnosis and management of MD are essential to have a better clinical outcome. More research is needed to explore and devise new strategies in the management of patients with MD.
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Yoganathan
authors.affiliation: Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Sniya Valsa
authors.initials: SV
authors.lastname: Sudhakar
authors.affiliation: Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Gautham
authors.initials: G
authors.lastname: Arunachal
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Maya
authors.initials: M
authors.lastname: Thomas
authors.affiliation: Department of Pharmacy Services, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Annadurai
authors.initials: A
authors.lastname: Subramanian
authors.affiliation: Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Renu
authors.initials: R
authors.lastname: George
authors.affiliation: Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
keywords: ATP7A; Menkes disease; X-linked recessive; copper histidine