Inborn errors of metabolism (IEM) -- an Indian perspective

Indian J Pediatr. 2005 Apr;72(4):325-32.

Abstract

The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.

Publication types

  • Review

MeSH terms

  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / therapy
  • Child
  • Diagnosis, Differential
  • Emergencies
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / therapy
  • Heredodegenerative Disorders, Nervous System / diagnosis
  • Humans
  • India
  • Infant
  • Infant, Newborn
  • Maple Syrup Urine Disease / diagnosis
  • Maple Syrup Urine Disease / therapy
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / therapy
  • Metabolism, Inborn Errors* / diagnosis
  • Metabolism, Inborn Errors* / therapy
  • Phenylketonurias / diagnosis
  • Phenylketonurias / therapy