Published in:
01-10-2019 | Gaucher Disease | Original Article
Clinical Spectrum of Inherited Disorders of Metabolism
Published in: Indian Journal of Pediatrics | Issue 10/2019
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Objective
To study the clinical profile and outcome of children with Inborn errors of metabolism.
Methods
Thirty one newly diagnosed children with Inborn errors of metabolism over a 1 y period were studied for their relevant clinical, biochemical, diagnosis, treatment and follow-up details.
Results
Inborn errors of metabolism accounted for 2% of hospital admissions. Sixty five percent were born to parents of consanguineous marriage. Of the 31 children with Inborn errors of metabolism, 16 (51%) had lysosomal storage disorders, 8 (26%) had disorders of amino acid metabolism, 2 (6%) each had disorders of carbohydrate and bile acid metabolism, 1 (3%) each had disorders of fatty acid oxidation, mitochondrial and peroxisome metabolism. Acrodermatitis dysmetabolica, as a complication was observed in one child and the overall mortality rate in this series was 10%.
Conclusions
Lysosomal storage disorders constituted the majority of Inborn errors of metabolism in this series and amino acidopathies/organic acidemias were successfully treated with special formulas.