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Abstract
Recent advances in diagnosis and treatment have improved
significantly the prognosis for many infants with IEM. Early clinical
diagnosis is essential in ensuring that affected infants will receive the
benefits of these advances.
A high index of suspicion of IEM should be raised in every sick
neonate. The first step in the evaluation of any sick neonate, is the clinical
assessment including history and physical examination. In the case of
metabolic disorders, the family history is critical, particularly if it reveals
previously poorly explained neonatal deaths.
The physical examination may alert the clinician to the possibility of a
specific diagnosis and then appropriate laboratory tests may be performed in
an attempt to verify that diagnosis. In case of neonate who has jaundice,
hepatomegaly, vomiting, diarrhea, failure to thrive, and cataracts. Most
pediatricians would immediately think of galactosemia, test the urine for
reducing substances, and institute a galactose-free diet pending the results of
definitive enzyme assays. The same is true of Pompe’s disease where the
findings of macroglossia, hypotonia, hepatomegaly, cardiomegaly, and
congestive heart failure without evidence of structural heart disease are
rarely associated with any other diagnosis.
When the clinical findings are not so distinctive, the diagnosis may, on
rare occasions, be suggested by the observation of an unusual feature such as
the odor of maple syrup in the urine of infants with MSU disease.
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The majority of IEM that occur in the neonatal period are
characterized by nonspecific signs and symptoms which are not useful in
making a diagnosis but when observed in combination, without a known
cause, are suggestive of such a diagnosis.
It is hoped that the guidelines presented in this review will assist the
physician in the recognition of infants who may have an IEM and in the
initial evaluation and stabilization of these patient.