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Test ID: FNEU    
Neurotransmitter Metabolites/Amines

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.

Age           5HIAA              HVA             3-O-MD

(years)      (nmol/L)           (nmol/L)        (nmol/L)

 

0-0.2        208-1159           337-1299         <300

0.2-0.5      179-711            450-1132         <300

0.5-2.0      129-520            294-1115         <300

2.0-5.0       74-345             233-928          <150

5.0-10        66-338             218-852          <100

10-15         67-189             167-563          <100

Adults        67-140             145-324          <100

 

Interpretation performed by Keith Hyland, Ph.D.

       

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

       

DISCLAIMER required by the FDA for high complexity clinical laboratories: HPLC testing was developed and its performance

characteristics determined by Medical Neurogenetics. These HPLC tests have not been cleared or approved by the U.S. FDA.

       

Test Performed By:       Medical Neurogenetics Lab

5424 Glenridge Drive NE

Atlanta, GA  30342

Interpretation Provides information to assist in interpretation of the test results

Recently, a cerebral folate deficiency syndrome has been described.  The clinical picture is one of developmental delay/regression, cerebellar ataxia, with or without seizures, with or without autism. This disorder is treatable with folinic acid.  If your patient fits the clinical picture we can measure 5-methyltetrahydrofolate in the CSF we already have if you wish to add on this test.  Please see: Ramaekers VT, Blau N. Cerebral folate deficiency, Dev Med Child Neurol. 2004 Dec;46(12):843-51. Cerebral folate deficiency has also been described in mitochondrial disorders.

     

We now have biomarkers for folinic acid/pyridoxine responsive seizures (Antiquitin, ALDH7A1) that appear on our neurotransmitter metabolite chromatogram.