BH4 Deficiency


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BH4 Deficiencies

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GTPCH	GFRP	PTPS	SR	PCD	DHPR

BH4 Deficiencies - Laboratories

List of laboratories performing tests for tetrahydrobiopterin deficiency
(ID# corresponds to the BIODEF database)

ID#1
Laboratory for Tetrahydrobiopterin Research
Division of Clinical Chemistry and Biochemistry
University Children's Hospital Zürich
Steinwiesstrasse 75
CH-8032 Zürich
Switzerland
Tel.: +41 44 266 7544
Fax: +41 44 266 7169

Corresponding person
Prof. Dr. Nenad Blau (nenad.blau @) kispi.uzh.ch)

Tests

Pterins (U, P, CSF, Guthrie card); Neurotransmitters and folates (CSF); Enzymes (DHPR, PTPS, GTPCH, SR) in different cells and tissues; Amino acids (U, P, CSF); DNA analysis of SR, PTPS and PCD
AADC activity in plasma
All tests free of charge on request.

ID#8
West Midlands Newborn Screening Center
Birmingham Children's Hospital
Steelhouse Lane
Birmingham, B4 6NH, UK
Tel.: +44 (0)121 333 9903
Fax: +44 (0)121 333 9913

Corresponding person
Ms. S.K. Hall (kate.hall @bch.nhs.uk)

Tests

Biopterin (B, P, Guthrie card); Enzymes (DHPR)
Price available on application.

ID#11
Laboratorio Aminoacidi - Clinica Pediatrica
Viale Andrea Doria 6
95125 Catania
Italy
Tel.: +39 95 256619 - 256455
Fax: +39 95 222532

Corresponding person
Dr. Concetta Meli (cmeli@tin.it)

Tests

Pterins (U); DHPR (Guthrie card)
Free for the families of PKU and HPA children admitted in our center
Pterins: L 250.000
DHPR: L 100.000

ID#13
Centro de Diagnostico de Enfermedades Moleculares (CEDEM)
Dept. Biologia Molecular. Fac de Ciencias
Universidad Autonoma
28049 Madrid
Spain
Tel.: +34 1 7347011
Fax: +34 1 7347797

Corresponding persons
Dr. M.J. Garcia (mgmunioz@trasto.cbm.uam.es)
Prof. M. Ugarte (mugarte@trasto.cbm.uam.es)

Tests

Pterins (P, U, CSF); DHPR (Guthrie card)
EUR 60.10

ID#17
The John F. Kennedy Institute
Department of Inherited Metabolic Disease
Gl. Landevej 7-9
DK 2600 Glostrup
Denmark
Tel.: +45 43 260100
Fax: +45 43 431130

Corresponding persons
Lisbeth Birk Møller (LBM@kennedy.dk)

Tests

DNA screening of GCH1, QDPR, SPR, PTS
DKK 3.200-6400 per test

ID#19
Clinical Biochemistry Research Laboratory
Department of Medical Research and Education
Veterans General Hospital
Peitou P.O. Box 2-207
Taipei, Taiwan 11216
Republic of China
Tel.: +886 2 28757401
Fax: +886 2 28733517

Corresponding persons
Kwang-Jen Hsiao, Ph.D. (hsiao@mail.pmf.org.tw)

Tests

Pterins (U); DHPR (Guthrie card); Enzymes (GTPCH) in PHA-stimulated lymphocytes; Phe (P, B); Tyr (P); DNA analysis of PTPS and DHPR
No charge

ID #20
Clinical Biochemist and Senior (hon) Lecturer in Neurochemistry
Department of Clinical Biochemistry
National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG
UK
Tel: +44-171-837-3611 Ext 4208
Fax: +44-171-833-1016

Corresponding persons
Dr. Simon Heales (sheales@ion.ucl.ac.uk)

Tests

Monoamine Metabolites (CSF) - Cost 75£
Pterin Profile - BH4, BH2 and total neopterin (CSF)- Cost 100£
Phenylalanine loading tests (P). Cost 125 £

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