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
Similar content being viewed by others
References
Verma IC. Burden of genetic disease in India.Indian J Pediatr 2000; 67 (12): 893–898.
ICMR Collaborating centres & central coordinating unit. Multicentric study on genetic causes of mental retardation in India.Indian J Med Res (B) 1991; 94 : 161–169.
Muranjan M. Personal communication analysis of data on Inborn Errors of Metabolism seen over a period from 1979 to 2004 at the Genetic clinic PRL, KEM Hospital Mumbai.
Recommended Readings
The Metabolic and Molecular Basis of Inherited Disease. CR Scriver, AL Beaudet, WS Sly, D Valle, eds. 7th edn (1995) McGraw Hill, Newyork.
Clinical Biochemistry and The Sick Child. BE Clayton, JM. Round. 2nd edn (1994), Blackwell Scientific Publications, Oxford.
A Clinical Guide to Inherited Metabolic Diseases. JTR Clarke 1996 Cambridge University Press, Cambridge
Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis.Pediatrics 1998; 102: 6.
Neurology of Hereditary Metabolic Diseases of Children; Gilles Lyon; Raymond D Adams Edwin H Kolodny. McGraw-Hill; 2nd edn.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kumta, N.B. Inborn errors of metabolism (IEM) — an Indian perspective. Indian J Pediatr 72, 325–332 (2005). https://doi.org/10.1007/BF02724016
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF02724016