Review
Detection of inborn errors of metabolism in the newborn
A Chakrapani, M A Cleary, J E WraithWillink
Biochemical Genetics Unit, Manchester M27 4HA, UK
Correspondence to: Dr Cleary maureen@willink.demon.co.uk
Accepted 17 November
2000
| The first 150 words of the full text of this article appear below. |
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Introduction |
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It is important for paediatricians and neonatologists to keep in mind inborn errors of metabolism (IEMs) as a cause of illness in the neonatal period, as many disorders are treatable and, in most cases, successful outcome is dependent on a rapid diagnosis and early instigation of therapy. Even with untreatable disorders, it is important to establish the diagnosis in the index case in order to allow prenatal diagnosis in subsequent pregnancies. In desperately sick neonates for whom no diagnosis is readily available, IEMs are near the top of the list of differential diagnoses.
IEMs can present in the newborn in a variety of ways. Typically, an IEM
is suspected as a result of a suggestive combination of acute clinical
symptoms without any prior warning. However, sometimes non-specific
clues exist, such as a previous unexplained neonatal death and, in some
families, the risk of an IEM is already highlighted by the
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- Re: Detection of inborn errors of metabolism in the newborn
- Jane Hawdon
- Fetal Neonatal Ed. Online, 27 Jul 2001 [Full text]
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