Testing for Dopamine and Serotonin Related Diseases

• Aromatic L- Amino Acid Decarboxylase Deficiency (AADC)
• Tyrosine Hydroxylase Deficiency (TH)
• Guanosine Triphosphate Cyclohydrolase I Deficiency (GTPCH)
• Sepiapterin Reductase Deficiency (SR)

Diagnosis of the above pediatric neurotransmitter diseases are made by one or more of the following tests:

• testing the cerebral spinal fluid for neurotransmitter metabolites and neopterin / tetrahydrobiopterin analysis
• quantitative plasma catecholamines, serotonin levels,urine catecholamines
• phenylalanine loading profile with and without tetrahydrobiopterin
• specific plasma or fibroblast enzymatic assay, molecular studies

There are very specific preparations and guidelines for the collection of these specimens which must be followed to ensure accurate results.

For information on testing procedures and protocols please have your physician contact:

In the United States

Keith Hyland PhD
Director
Medical Neurogenetics, LLC
One Dunwoody Park
Atlanta, GA 30338
Phone (678) 225-0222
Fax (678) 225-0212
[email protected]
[email protected]

Teodoro Bottiglieri, Ph.D.
Principle Investigator, Director of Neuropharmacology
Adjunct Professor of Biomedical Studies
Baylor University Medical Center
Institute of Metabolic Disease
Phone (214) 820-4748
Fax (214) 820-4853
[email protected]
Web: http://www.baylorhealth.edu/imd/