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09:28

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Published on: June 25, 2010

Profile of inborn errors of metabolism in a tertiary care centre PICU

Mahesh Kamate1, Vivek Chetal, Vijaylaxmi Kulgod

  • 1Department of Pediatrics, KLE University's J.N. Medical College and KLES PK Hospital, Belgaum, India. drmaheshkamate@gmail.com

Indian Journal of Pediatrics
|February 6, 2010
PubMed

Insights

Inborn errors of metabolism (IEM) are frequently seen in the pediatric intensive care unit (PICU), with a significant mortality rate. Early diagnosis using biochemical tests and neuroimaging is crucial for better outcomes.

Area of Science:

  • Pediatric Critical Care
  • Metabolic Disorders
  • Genetics

Background:

  • Inborn errors of metabolism (IEM) are a group of genetic disorders affecting metabolic pathways.
  • These conditions can present with a wide range of clinical manifestations, often leading to critical illness.

Purpose of the Study:

  • To investigate the clinical and investigative characteristics of patients with IEM admitted to a pediatric intensive care unit (PICU).
  • To determine the outcomes and mortality associated with IEM in the PICU setting.

Main Methods:

  • Retrospective analysis of patient records admitted to a tertiary care PICU over a 13-month period.
  • Data collected included clinical presentation, laboratory results, treatment interventions, and patient outcomes.

Main Results:

  • Inborn errors of metabolism (IEM) accounted for 2.6% of all PICU admissions.
  • The study observed a high mortality rate of 36% among these patients.
  • Clinical presentations were diverse, highlighting the varied nature of IEM.

Conclusions:

  • Inborn errors of metabolism (IEM) represent a significant, non-negligible proportion of pediatric intensive care unit admissions.
  • Simple biochemical tests and neuroimaging are valuable diagnostic tools for identifying IEM.
Abstract

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