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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

Dihydropteridine reductase (DHPR) activity (Guthrie card)

This test is essential in every newborn with even mild hyperphenylalaninemia, as well as in older patients with neurological symptoms.

Blood collection for DHPR activity

Collect 2-4 drops of blood on a Guthrie card. Protect the card from humidity.

DHPR activity in RBC (reference values)

Age
DHPR(RBC)
 
µU/g Hb
Newborns
2.0µ-5.0
Fetus (16-20 wg)
2.3-3.8

REFERENCES

  • Arai N, Narisawa K, Hayakawa H, Tada K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Pediatrics 1982;70:426-430.
  • Bracco G, Iavarone A, Pagliardini S, Levis F, Guardamagna O, Ferraris S, Ponzone A. Dihydropteridine reductase activity in fetal tissues. In: Curtius HC, Blau N, Levine RA, eds. Unconjugated Pterins and Related Biogenic Amines. Berlin, New York: de Gruyter, 1987: 265-273.



 


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