title: Alpha-1 antitrypsin deficiency among Indian children with liver disorders.
abstract: OBJECTIVE
  To determine the frequency of alpha-1 antitrypsin (AAT) deficiency in children with chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS).
  
  
  METHODS
  All children with NCS (n=23) or CLD (n=35) attending the Pediatric Gastroenterology Clinic between November 2003 and July 2005 were screened for AAT deficiency using phenotyping through isoelectric focusing of plasma.
  
  
  RESULTS
  Of the 58 children studied, 57 had normal PiMM phenotype. One child with CLD had the M1E type of normal variant. None of the patients had the abnormal phenotype PiZZ.
  
  
  CONCLUSIONS
  AAT deficiency is infrequent among children with CLD and NCS in our region.
authors.affiliation: Department of Pediatrics, J.N. Medical College, AMU, Aligarh 202002, India.
authors.forename: Rajeev
authors.initials: R
authors.lastname: Khanna
authors.forename: Seema
authors.initials: S
authors.lastname: Alam
authors.forename: Rana
authors.initials: R
authors.lastname: Sherwani
authors.forename: Shivali
authors.initials: S
authors.lastname: Arora
authors.forename: N K
authors.initials: NK
authors.lastname: Arora
authors.forename: Ashraf
authors.initials: A
authors.lastname: Malik
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications*; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D008107:Liver Diseases / Q000150:complications*; D010641:Phenotype; D011517:Prothrombin Time; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000453:epidemiology* / Q000235:genetics
chemical_list: D002570:Ceruloplasmin; D000410:Alanine Transaminase