• Anik Puryatni Division of Nutrition and Metabolic diseases, Department of Pediatrics, Saiful Anwar General Hospital, Medical Faculty of Brawijaya University
  • Tom J. de Koning




Acute  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.  
Key words: acute encephalopathy, inborn error metabolisme


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