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Published on: August 6, 2018
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center
Moinak Sen Sarma1, Anshu Srivastava, Surender Kumar Yachha
1Department 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.
Insights
Galactosemia in children presents with early symptoms, often including coagulopathy and infections. Despite challenges, early diagnosis and dietary management lead to rewarding long-term outcomes, though some may experience developmental delays.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Genetics
Background:
- Galactosemia is a rare genetic disorder affecting carbohydrate metabolism.
- Early diagnosis and management are crucial for preventing severe complications.
Purpose of the Study:
- To analyze the clinical presentation of galactosemia in children.
- To identify predictors of outcome in pediatric patients with galactosemia.
Main Methods:
- Analysis of clinical, laboratory, and microbiological data.
- Inclusion criteria: clinical signs, reduced erythrocyte Gal-1-PUT enzyme activity, and response to a lactose-free diet.
- Outcome assessment in 24 diagnosed patients.
Main Results:
- Median age at symptom onset was 10 days, and diagnosis at 55 days.
- Common complications included uncorrectable coagulopathy (71%), systemic infections (71%), and ascites (54%).
- Despite high Pediatric End-Stage Liver Disease (PELD) scores and infections, outcomes were generally positive.
Conclusions:
- Long-term outcomes for children with galactosemia are often rewarding with appropriate management.
- A subset of patients may experience developmental delays despite treatment.
- Timely diagnosis and intervention are critical for improving patient prognosis.
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.
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