Anzeige
Erschienen in:
20.06.2019 | Original Article
Clinical Spectrum of Inherited Disorders of Metabolism
Erschienen in: Indian Journal of Pediatrics | Ausgabe 10/2019
Einloggen, um Zugang zu erhaltenAbstract
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.