Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center.
Indian Pediatr
;
2016 Jan; 53(1): 27-31
Article
in English
| IMSEAR
| ID: sea-172422
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Prognostic study
Language:
English
Journal:
Indian Pediatr
Year:
2016
Type:
Article
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