http://www.ncbi.nlm.nih.gov/pubmed/26840667

. Galactosemia

Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A. Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. Indian Pediatr. 2016 Jan 8; 53(1):27-31.

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.

CONCLUSION:
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.