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
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/

Outside the United States

Nenad Blau, PhD
Professor of Clinical Biochemistry
Head, Tetrahydrobiopterin Research Laboratories
Division of Clinical Chemistry and Biochemistry
University Children’s Hospital, Zurich
Steinwiesstrasse 75, CH-8032
Tel +411 266 7544
Fax + 411 266 7169
Email: [email protected]

Simon Heales BSC , PhD, FRCPath
Institue of Neurology
University College London
Miriam Marks Division of Neurochemistry
020 7837 3611
[email protected]

Georg F. Hoffmann MD
University Of Heidelberg
Im Neuenheimer Feld 153
69120 Heidelberg, Germany
[email protected]

Emilio Fernandez-Alvarez
Neuropediatric Department
Hospital San Juan de Dios
Paseo San Juan de Dios, 2
08950 Esplugues
Barcelona Spain 08950
[email protected]