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Inborn errors of metabolism in a tertiary care hospital of eastern India

Moushumi Lodh1, Anand Kerketta

  • 1Department of Biochemistry and *Pediatrics and Neonatology, The Mission Hospital, Immon Kalyan Sarani, Sector 2C, Bidhannagar, Durgapur, West Bengal, India. drmoushumilodh@gmail.com.

Indian Pediatrics
|January 14, 2014
PubMed

Insights

Screening newborns for inborn errors of metabolism (IEM) identified 15% of infants as screen positive. Early detection and treatment of conditions like glucose-6-phosphate dehydrogenase (G6PD) deficiency are crucial for improved infant health outcomes.

Area of Science:

  • Medical Genetics
  • Neonatal Screening
  • Metabolic Disorders

Background:

  • Inborn errors of metabolism (IEM) present significant diagnostic and therapeutic challenges.
  • Neonatal screening programs are vital for early identification of metabolic disorders.

Purpose of the Study:

  • To evaluate the prevalence of screen-positive cases for IEM in a newborn population.
  • To identify common IEM detected through newborn screening.

Main Methods:

  • Prospective screening of all newborn babies over a 4-year period.
  • Analysis of screening results to determine the incidence of positive cases.

Main Results:

  • 91 neonates (15%) were identified as screen positive for IEM.
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency was the most frequently detected condition.

Conclusions:

  • Newborn screening effectively identifies a significant proportion of infants with potential IEM.
  • Timely diagnosis and intervention, particularly for G6PD deficiency, can lead to better patient outcomes.

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