Peer-reviewed article
Clinical Spectrum of Inherited Disorders of Metabolism.
Ramaswamy Ganesh, R Abinesh, Lalitha Janakiraman ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study describes the clinical features and outcomes of 31 children newly diagnosed with inborn errors of metabolism over one year. Lysosomal storage disorders were the most common type, followed by amino acid metabolism disorders. Most affected children had parents in consanguineous marriages. Treatment with special formulas was effective for some amino acid disorders, though the overall mortality rate was 10%.
Key points
- Inborn errors of metabolism accounted for 2% of hospital admissions
- 51% of cases were lysosomal storage disorders, 26% were amino acid metabolism disorders
- 65% of affected children were born to consanguineous parents
- Amino acidopathies and organic acidemias were successfully treated with special formulas
- Overall mortality rate in the series was 10%
Limitations
The document does not specify the hospital location or country, making it unclear where this research was conducted. The small sample size of 31 children limits generalisability of findings to other populations.
Abstract
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.