Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression disease with global developmental delay, early hypotonia, movement disorders such as oculogyric c...

We have found that two-photon fluorescence imaging of nicotinamide adenine dinucleotide (NADH) provides the sensitivity and spatial three-dimensional resolution to resolve metabolic signatures in processes of astrocytes and neurons deep in highly scattering brain tissue slices. This functional imaging reveals spatiotemporal partitioning of glycolytic and oxidative metabolism between astrocytes ...

Molybdenum cofactor (MC) deficiency is defined as a progressive neurodegenerative and neurometabolic disease, characterized by convulsions, severe mental and motor retardation resistant to the treatment. Patients with MC deficiency usually need at least sedation for even minor interventions such as dental examination or treatment. Sedation or general anesthesia for these patients may be complic...

Behavioral neurology has been bridging the gap between neurology and psychiatry in children. There are several neuropsychiatric disorders of children in which aggression is a dominant symptom. Both global disorders like attention deficit hyperactivity disorder as well as localized dysfunction of the brain may lead to aggression. A number of neurometabolic disorders as well as post-epileptic and...

Mild traumatic brain injury, especially sport-related concussion, is common among young persons. Consequences of transient pathophysiologic dysfunction must be considered in the context of a developing or immature brain, as must the potential for an accumulation of damage with repeated exposure. This review summarizes the underlying neurometabolic cascade of concussion, with emphasis on the you...

While abnormalities related to concussion are typically not identified on traditional clinical neuroimaging (i.e., computed tomography [CT] or magnetic resonance imaging [MRI]), more sophisticated neuroimaging techniques have the potential to reveal the complex neurometabolic processes related to concussion and its recovery. Clinically, these techniques may one day provide useful information to...

Organic acidurias are an important group of inherited metabolic disorders that affect the intermediary metabolic pathways of carbohydrate, amino acid, and fatty acid oxidation, leading to the accumulation of organic acids.(1) The 2-hydroxyglutaric acidurias are rare neurometabolic disorders characterized by developmental delay with or without other neurologic dysfunction. Three different subtyp...

BACKGROUND Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound...