Clinical Spectrum of Inherited Disorders of Metabolism
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To study the clinical profile and outcome of children with Inborn errors of metabolism.
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.
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%.
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.
KeywordsMetabolism Lysosomes Organic acidemias Children
The authors acknowledge the help of Dr. Ashwin Dalal, CDFD for enzyme analysis, Dr. Seema Kapoor, MAMC for performing TMS and faculty of Medgenome for genetic analysis.
RA collected the data. RA and RG reviewed the literature and drafted the manuscript. RG and LJ were involved in patient management and reviewed the manuscript for intellectual content. RG will act as the guarantor for this article.
Compliance with Ethical Standards
Conflict of Interest
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