Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View


Vol 9, No 1 (2015): Iran J Child Neurol. Winter 2015

You can see full article in below link:





How to Cite This Article: Karimzadeh P. Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View. Iran J Child Neurol. 2015 Winter;9(1): 1-16.



Neurometabolic disorders are an important group of diseases that mostly are
presented in newborns and infants.
Neurological manifestations are the prominent signs and symptoms in this group
of diseases. Seizures are a common sign and are often refractory to antiepileptic drugs in untreated neurometabolic patients.
The onset of symptoms for neurometabolic disorders appears after an interval of
normal or near normal growth and development.Additionally, affected children
may fare well until a catabolic crisis occurs.
Patients with neurometabolic disorders during metabolic decompensation have
severe clinical presentation, which include poor feeding, vomiting, lethargy,
seizures, and loss of consciousness.
This symptom is often fatal but severe neurological insult and regression in
neurodevelopmental milestones can result as a prominent sign in patients who
Acute symptoms should be immediately treated regardless of the cause.
A number of patients with neurometabolic disorders respond favorably and, in
some instances, dramatically respond to treatment.
Early detection and early intervention is invaluable in some patients to prevent
catabolism and normal or near normal neurodevelopmental milestones.
This paper discusses neurometabolic disorders, approaches to this group of
diseases (from the view of a pediatric neurologist), clinical and neurological
manifestations, neuroimaging and electroencephalography findings, early
detection, and early treatment 


Neurometabolic disorders; Neurological manifestation; Electroencephalography; Early detection; Early treatment