Published: 2020-02-25

Clinical spectrum of inborn errors of metabolism in children in a tertiary care hospital

Jayashree K. R., Madhivanan S., Kumarasamy K., Karthick A. R.


Background: Inborn Errors of Metabolism (IEM) are a group of disorders occurring due to disruption of normal biochemical process. Prompt diagnosis is often only the beginning of a long medical journey for the affected children and their family. Pediatricians play a vital role in establishing the continuity of care, providing treatment when needed and referrals to specialists. Reported prevalence of IEM is 1 in 2497 newborn though, true pan India prevalence is still unknown. This study was carried to determine the clinical spectrum of inborn errors of metabolism in a tertiary care hospital in South India.

Methods: Records of all patients suspected and diagnosed to have inborn errors of metabolism in Institute of Child Health and Hospital for Children, Madras Medical College from April 2018 to October 2019 were sequentially included in the study. Details of clinical presentation, investigations and treatment were noted and analysed.

Results: In this study 65 children diagnosed to have inborn errors of metabolism were included in the study and of them 27(41.5%) had derangement in carbohydrate metabolism, 16(24.6%) in protein metabolism and 22(33.9%) in lipid metabolism. Mean age at presentation was 37 months with range of 2 months to 10 years of age. Most common clinical manifestation was poor feeding (67.7%) followed by fever (64.6%) and dyspnea (63.1%). Of these 65 children, mortality was observed in 10 cases (15%).

Conclusions: IEM contribute to a significant cause of global child morbidity and mortality. A high index of suspicion is most important in making the diagnosis. IEM should be considered in children with features mimicking sepsis and unexplained course. Screening programmes and prenatal diagnosis of IEM will go a long way in preventing these disorders and early diagnosis helps initiate prompt therapy which is very much essential to prevent lethal complications.


Clinical profile, Inborn errors of metabolism, Outcome

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