BH4 Deficiencies


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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





GTPCH	GFRP	PTPS	SR	PCD	DHPR

BH4 Deficiencies - Screening Tests
specimen collection, normal and pathological values

Tests

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