GABA Related Neurotransmitter Disease 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 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. [Home]  [What are Neurotransmitters]  [What are PND's]  [Disease Information]  [Testing]  [Disease Databases]  [Family and Professional Registry]  [What's New]   [Board of Directors]  [Medical & Scientific Board]  [Literature]  [Helpful Links]  [Our Kids]  [Online Support Group]  [First Symposium on PND'S]