title: Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center.
abstract: OBJECTIVE
  To analyze the presentation and predictors of outcome of children with galactosemia.
  
  
  METHODS
  Analysis of clinical, laboratory, microbiological profile and outcome of patients fulfilling the diagnostic criteria: i) clinical setting; ii) reduced erythrocyte Gal-1-PUT enzyme activity; and iii) unequivocal response to lactose-free diet.
  
  
  RESULTS
  24 patients; median age of symptom onset and diagnosis: 10 (3-75) d and 55 (15-455) days, respectively. 71% had uncorrectable coagulopathy; 71% systemic infections; and 54% had ascites.
  
  
  CONCLUSIONS
  Despite delayed referral, high Pediatric end-stage liver disease scores and systemic infections, long-term outcome in galactosemia is rewarding. A subset of children have developmental delay.
authors: Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Correspondence to: Dr Surender Kumar Yachha, Professor and Head, Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India. skyachha@yahoo.co.in.
authors: Moinak Sen
authors: MS
authors: Sarma
authors: Anshu
authors: A
authors: Srivastava
authors: Surender Kumar
authors: SK
authors: Yachha
authors: Ujjal
authors: U
authors: Poddar
authors: Amrita
authors: A
authors: Mathias
mesh_terms: D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D008297:Male; D012017:Referral and Consultation; D012189:Retrospective Studies; D016896:Treatment Outcome