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What are Neurotransmitters?

Neurotransmitters are chemicals that are released during a nerve impulse to either excite or inhibit nerve function. There are many neurotransmitters in the body, all of which work together to regulate motor coordination, behavior, temperature, pain mechanisms, blood flow and many other biochemical and physiologic properties. When there is a disruption within the neurotransmitter system, it can cause abnormalities with all of these essential functions.

The neurotransmitters that are involved in these disease groups include the catecholamines (dopamine, norepinephrine, epinephrine), serotonin and gamma-aminobytric acid (GABA).

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GABA - Pathway Diagram
Dopamine Pathway Diagram

What are Pediatric Neurotransmitter Diseases (PNDs)?

Pediatric neurotransmitter diseases refer to a group of recently identified disorders that severely affects the central nervous system in children. These inborn errors of metabolism can cause a variety of symptoms. Characteristic features include hypotonia (low muscle tone), tremors, irritability, abnormal eye movements, psychomotor retardation (delay in motor skills), absence of speech and temperature instability. The age of onset may vary from infancy to childhood and symptoms may be sudden or gradual depending on the particular metabolic defect.

Presently there is a broad spectrum of neurological conditions that occur in children including seizures, movement disorders, cerebral palsy and developmental delays, for which there is often no identifiable cause. Neurotransmitter diseases are considered to be rare conditions. However, research now indicates that some of these conditions may actually be caused by a disease of neurotransmitter metabolism.

Currently the PND Association represents four of these known diseases:

  • Tyrosine Hydroxylase Deficiency
  • Aromatic L-Amino Acid Decarboxylase Deficiency
  • GTP Cyclohydrolase I Deficiency (Dopa-Responsive Dystonia)
  • Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

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