Testing for PND's

Many of the symptoms for neurotransmitter diseases are non-specific and diagnosis may be difficult.  It is recommended that if a child has broad spectrum neurological symptoms with no known etiology testing for a PND should be considered.  Presently there is no cure for PND's.  For some of the diseases however, treatment can significantly reduce symptoms and improve quality of life.  Identification and proper diagnosis is imperative.

Testing for GABA related diseases;

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

Diagnosis of SSADH is generally made by testing the urine for an accumulation of 4-hydroxybutyric acid.  Which is typically included in urine organic acids.  However, testing by a mass spectrometric blood analysis is highly recommended.

For information on SSADH testing procedures, please have your physician contact:

K.Michael Gibson PhD, FACMG
Associate Professor
Molecular & Medical Genetics & Pediatrics
Director, Biochemical Genetics Laboratory
Oregon Health Sciences University
Mail Code MP-350
2525 SW 3rd Ave. Suite 350
Portland, Oregon  97207;
Phone (503) 494-2400
[email protected]

Testing for Dopamine and Serotonin related diseases:

Aromatic L- Amino Acid Decarboxylase Deficiency
Tyrosine Hydroxylase Deficiency
GTP -1 Cyclohydrolase Deficiency
Sepiapterin Reductase Deficiency

Diagnosis of the above 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 specific preparations and guidelines for the collection of these specimens which must be followed to ensure accurate results.  Presently these tests are only performed in one laboratory in the United States.  For information on testing procedures and protocols, please have your physician contact:

Keith Hyland PhD
Director of Neurochemistry Laboratory
Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease
Baylor University Medical Center
3812 Elm Street
Dallas, Texas  75226;
Phone (214) 820-4533
Fax (214) 820-4952
[email protected]

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