GABA Related Neurotransmitter Disease

Name

Onset

Signs and Symptoms

Pattern of Inheritance (1)

Diagnostic Testing (2)

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

Neonatal Infancy

Psychomotor retardation, hypotonia, seizures, speech delay.

Autosomal recessive

Blood & urine

Dopamine and Serotonin Related Diseases

Name

Onset

Signs and Symptoms

Pattern of Inheritance (1)

Diagnostic Testing (2)

Aromatic L- Amino Acid Decarboxylase Deficiency

Infancy

Hypotonia, tremor, dystonia, parkinsonian symptoms, abnormal eye movements, sweating, temperature instability, irritability, and developmental delay.

Autosomal recessive

CSF

Tyrosine Hydroxylase Deficiency

Infancy

Hypotonia, tremor, dystonia, parkinsonian symptoms, drooling, irritability, abnormal eye movements, and developmental delay.

Autosomal recessive

CSF

Dopa- Responsive Dystonia (GTP Cyclohydrolase I Deficiency)

Varies

Dystonia (often begins in one foot), tremor, abnormal eye movements, irritability, and developmental delay.

Autosomal dominant

Blood, CSF

• The neurotransmitter diseases listed in this table include those represented by the PND Association. Research indicates there are many other neurotransmitter defects that have not yet been identified.

• (1) For more information about pattern of inheritance, consultation with an ABMG (American Board of Medical Genetics) board certified clinical or clinical biochemical geneticist is recommended.
• (2) Specific testing is required for each individual defect; please contact the Association for more information.

For specific disease information please contact the PND Association family disease representative.

© 2003 Pediatric Neurotransmitter Disease Association

www.pndassoc.org