Biochemical Genetics

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Newborn Screening for Inherited Metabolic Diseases (IEM)

A simple blood test which identifies babies who may have rare but serious conditions due to Inherited Metabolic Diseases (IEM).

Inherited Metabolic Diseases, also known as Inborn Errors of Metabolism (IEM), are genetic diseases caused by lacking of certain enzyme or protein, which is essential for metabolic reactions in our body.

Affected babies appear normal at birth and, unless they are screened, might not be diagnosed until irreversible damage has occurred such as recurrent illness, mental or physical disability and potentially infant death, if not treated.

Early detection and definite diagnosis, followed by treatment can significantly improve outcomes. For some, preventive care can help to improve or maintain the quality of life of babies.

IEM affects ANYONE regardless of ethnicity, age, gender
IEM affects 150 babies out of 500,000 newborns in Malaysia yearly (1 in 3,000 Malaysian newborns)
Source: Learning About Metabolic Disease. New Straits Times, 2 Jan 2008.
Affected babies inherit defective genes from the parents who may be usually healthy but are actually carriers of the abnormal genes


The World Health Organisation (WHO) recommended that newborn screening be
mandatory when early diagnosis and treatment can benefit children.

Adapted from:
World Health Organisation, 1998: Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services.

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