ENCEPHALOPATY AKUT PADA ANAK DENGAN KELAINAN METABOLISME BAWAAN (PENDEKATAN PRAKTIS)
DOI:
https://doi.org/10.21776/ub.jkb.2008.024.03.7Abstract
ABSTRACTAcute encephalopathy is a not a common, but a potential emergency situation in newborns and young
children. If the encephalopathy is not caused by asphyxia or infections 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 emphasis 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 appearance of the patient in one of the following
clinical categories: Hypoglycemia phenotype; Intoxication phenotype; Neurotransmitter defect phenotype; and
Cellular energy metabolism defect phenotype. Second, combine this clinical classification with your physica
examination and the result of routine laboratory investigations and this can lead to suspected diagnosis of
metabolic disorders.Prompt recognition and treatment are important, because an acute metabolic
encephalopathy can irreversible and interruption of normal neural activity in the developing brain can have a
long-lasting effect on psychomotor development. Delay in diagnosis and treatment may thus result in acute
metabolic decompensation, progressive neurologic injury, or even death. Â
Key words: acute encephalopathy, inborn error metabolisme
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