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Acute Encephalopathy in Children With Inbprn Errors of Metabolism (APractical Approach)

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Cute encephalopathy is a not a common, but a potential emergency situation in newborn and young children. If the encephalopathy is not caused by asphyxia or infection of the brain, rare inborn errors of metabolism need to be considered. An acute encephalopathy due to an inborn error can occur in newborns, young infants, or even in childhood and is not always easily recognized because more subtle presentations can occur. In this article we will give a practical guideline to the diagnostic approach of metabolic diseases presenting with acute neurological symptoms with an amphasis on treatable disorders and the application in developing countries with limited diagnostic resources. The first step in the evaluation of patient with a possible metabolic disease Is to categorise the clinical apperarance of the patient in one of the following clinical categories: Hypoglycemia phenotype; Intoxication phenotype; Neurotrasmitter defect phenotype; and cellular energy metabolism defect phenotypepe. Second, combine this clinical classification with your physical examination and the result of routine laboratory investigations and this can lead to suspected diagnosis of metabolic disorders. Promot recognition and treatment neural activity in the developing brain can have-lasting effect on psychomotor development. Delay in diagnosis and treatment mey thus result in acute metabolic decompensation, progressive neurologic injury, or even death.

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Detail Information

Series Title

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Call Number

Jurnal Kedokteran Brawijaya,24(3):142-147

Publisher

Malang : Fk. Universitas Brawijaya., 2008

Collation

4p.

Language

English

ISBN/ISSN

0216-9347

Classification

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Content Type

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Media Type

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Carrier Type

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Edition

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Subject(s)

BRAIN DIEASES
METABOLISM, INBON ERRRORS

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