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BH4 Screening Tests
General information
Pterins (neopterin, biopterin) in urine (essential)
Dihydropteridine reductase (DHPR) activity in RBC on Guthrie card (essential)
Loading test with BH4 (recommended)
Neurotransmitter metabolites (5HIAA, HVA, etc.) and pterins in CSF
Folates (5MTHF) in CSF
Enzyme activity - PTPS
Enzyme activity
GTPCH | PCD | DHPR | SR
in RBC, WBC or FB
Phenylalanine loading test in patients with DRD (Segawa disease)
DNA analysis

 

 
Databases Deficiency Pterins Conferences Literature Zurich
GTPCH
GFRP
PTPS
SR
PCD
DHPR
BH4 Deficiencies - Screening Tests

Cerebrospinal fluid (CSF) investigations

see also the Cerebral Folates Deficiency (CFD) Home Page
http://www.folates.com

Sampling
Discard the first 0.5 ml of CSF and collect the next 1-3 ml in a small tube. Keep immediately frozen at -70°C. There is no need for any additives or to collect additional CSF fractions.

Keep a portion of 1 ml CSF frozen at -70°C in your own laboratory until results arrive.

Pitfalls
avoid medications, avoid blood contamination (centrifuge before freezing), keep in dark at -70°C

Send CSF on dry ice, preferably by FedEx, to:

Prof. Dr. Nenad Blau
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Steinwiesstrasse 75
CH-8032 Zürich
Switzerland
Tel.: +41 44 266 7544
Fax: +41 44 266 7169
Email: nenad.blau @ kispi.unizh.ch

We need 1 ml of CSF for the following tests:
5-Methyl-tetrahydrofolate (5MTHF)
Homovanillic acid (HVA) and 5-Hydroxyindoleacetic acid (5HIAA)
Neopterin and Biopterin
Amino acids (incl. Homocysteine)

Turnaround time
Weekly

Prices
5-Methyl-tetrahydrofolate (CHF 80.-)
Homovanillic acid (CHF 80.-) and 5-Hydroxyindoleacetic acid (CHF 80.-)
Neopterin (CHF 50.-) and/or Biopterin (CHF 80.-)
Amino acids (CHF 200.-)
Homocysteine (CHF 80.-)

Ask for services and prices on research basis.

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