A strong connection between neuronal and metabolic health has been revealed in recent years. It appears that both normal and pathophysiological aging, as well as neurodegenerative disorders, are all profoundly influenced by this "neurometabolic" interface, that is, communication between the brain and metabolic organs. An important aspect of this "neurometabolic" axis that needs to be investigat...

Objective 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 int...

Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Asp...

The functional and structural integrity of the brain requires local adjustment of blood flow and regulated delivery of metabolic substrates to meet the metabolic demands imposed by neuronal activation. This process-neurovascular coupling-and ensued alterations of glucose and oxygen metabolism-neurometabolic coupling-are accomplished by concerted communication between neural and vascular cells. ...

PURPOSE To examine the characteristics of epilepsy in children with neurometabolic disorders to reveal co morbidities and optimal treatment. METHODS We retrospectively reviewed the files of children diagnosed with a neurometabolic disorder and treated at Jordan University Hospital between 2001 and 2012. We examined the incidence, age at onset, clinical characteristics, and medical control of ...

In neuropsychiatric research, the aspects of sex have received increasing attention over the past decade. With regard to the neurometabolic differences in the prefrontal cortex and the cerebellum of both men and women, we performed a magnetic resonance spectroscopic (MRS) study of a large group of healthy subjects. For neurometabolic measurements, we used single-voxel proton MRS. The voxels of ...

how to cite this article: ahmadabadi f. neurometabolic registry site in iran (leukodystrophies). iran j child neurol. autumn 2014;8;4(suppl.1):22. pls see pdf.