BH4 Deficiencies


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Dopa-responsive dystonia

Cerbrospina fluid (CSF) investigations for neurotransmitter metabolites and pterins

Neopterin and biopterin in cytokine-stimulated fibroblasts

GTP cyclohydrolase activity in cytokine-stimulated fibroblasts

Loading test with phenylalanine (100 mg/kg)

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GTPCH	GFRP	PTPS	SR	PCD	DHPR

Dopa-responsive dystonia (DRD)

Laboratory diagnosis

The tests shown on the left may be useful in the diagnosis of DRD

Reference:

Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of Dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001:doi:10.1006/mgme.2001.3213.

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