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. Outcome: consisted of 87.5% survival with normalization of liver function tests at 5.5 (1-24) months follow-up.
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.
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Sarma, M.S., Srivastava, A., Yachha, S.K. et al. Classical galactosemia among Indian children: Presentation and outcome from a Pediatric Gastroenterology center. Indian Pediatr 53, 27–31 (2016). https://doi.org/10.1007/s13312-016-0784-5
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DOI: https://doi.org/10.1007/s13312-016-0784-5