What are Pediatric Neurotransmitter Diseases?

“Pediatric Neurotransmitter Disease” is an umbrella term for genetic disorders that affect the synthesis, metabolism and catabolism of neurotransmitters in children. These inborn errors of metabolism affect the central nervous system in children and if left untreated can lead to severely compromised neurological function.  The symptoms of some pediatric neurotransmitter diseases can be completely treated whereas in other pediatric neurotransmitter diseases treatment can sometimes improve quality of life.

Pediatric Neurotransmitter Diseases are distinguishable by their respective affected neurotransmitters. Two categories presently exist amongst pediatric neurotransmitter diseases and symptoms and treatments are determined by the specific disease.

For disease specific information please go to PND Facts links.

GABA Related Disease

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

Characteristic features of GABA Related Disease include;

• delayed gross and fine motor development
• delayed mental development
• delay speech and language
• hypotonia
• ataxia

Dopamine/Serotonin Related Diseases

Tyrosine Hydroxylase Deficiency (TH)

Aromatic-L-Amino Acid Decarboxylase Deficiency (AADC)

Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH)  

Sepiapterin Reductase Deficiency (SR)

 Characteristic features of Dopamine/Serotonin Related Diseases include:

• dystonia or tremor
• hypotonia or rigidity
• diurnal variation of movement disorder
• expressive speech delay
• oculogyric crises  (upward fixed gaze)
• excessive sweating
• temperature instability
• hypoglycemia
• sleep disturbance
• irritability