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Test Catalog

Test ID: FFTEN    
Tetrahydrobiopterin and Neopterin Profile (BH4, N)

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

CSF Neopterin/Tetrahydrobiopterin (NC03) is useful for diagnosis of certain disorders of neurotransmitter metabolism. This testing may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL Tetrahydrobiopterin (BH4) serves as a cofactor for the hydroxylation of phenylalanine and in the biosynthesis of biogenic amines. Deficiency of BH4 may occur as a result of mutations causing a reduction in one of the three biosynthetic enzymes, guanosine triphosphate cyclohydrolase, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, or the two regenerating enzymes, pterin-4-carbinolamine dehydratase, and dihydropteridine reductase. Defects in BH4 metabolism can result in hyperphenylalaninemia and deficiency of the neurotransmitters dopamine and serotonin. Changes in CSF neopterin may also occur in deficiency of the BH4 synthesis pathway. Disorders of BH4 metabolism are characterized by a wide range of symptoms that may include developmental delay, mental disability, behavioral disturbances, dystonia, Parkinsonian symptoms, gait disturbances, speech delay, psychomotor retardation and ptosis.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Tetrahydrobiopterin/Neopterin Profile

 

Age

BH4

Neop

(years)

(nmol/L)

(nmol/L)

0 – 0.2

40 – 105

7 – 65

0.2 – 0.5

23 – 98

7 – 65

0.5 – 2.0

18 – 58

7 – 65

2.0 – 5.0

18 – 50

7 – 65

5.0 – 10

9 – 40

7 – 40

10 – 15

9 – 32

8 – 33

Adults

10 – 30

8 - 28

 

Note: If test results are consistent with the clinical presentation, please call our laboratory to discuss the case and/or submit a second sample for confirmatory testing.

 

An important consideration for false positive for false negative results is the improper labeling of the patient sample.