Table 1.
Metabolites measured in plasma and cerebral spinal fluid (CSF) following treatment with sapropterin dihydrochloride (BH4)
 | ||||
|---|---|---|---|---|
| Metabolite | Neurotransmitter therapya Prior to BH4 supplementation |
Neurotransmitterb + BH4 (20 mg/kg/day) therapy |
Neurotransmitterb + BH4 (40 mg/kg/day) therapy |
Reference ranges |
| 5-MTHF, CSF | 100 | 100 | 95 | 40–150 nmol/L |
| 5-HIAA, CSF | 23 | 8 | 18 | 74–345 nmol/L |
| HVA, CSF | 108 | 100 | 137 | 233–928 nmol/L |
| 3-O-methyldopa, CSF | 201 | 616 | 292 | < 150 nmol/L |
| Neopterin, CSF | 15 | 10 | 9 | 7–65 nmol/L |
| Tetrahydrobiopterin, CSF | 12 | 12 | 16 | 18–50 nmol/L |
| Dihydrobiopterin, CSF | 28 | 31 | 27 | 2.2–13 nmol/L |
| Phenylalanine, CSF | 34.8 | 133.9* | 11 | 5–25 nmol/mL |
| Phenylalanine, plasma | 170.5 | 75.5* | 60.0 | 23–95 nmol/mL |
| Tyrosine, CSF | 9.6 | 12.4 | 9.1 | 4–26 nmol/ml |
| Tyrosine, plasma | 82.8 | 49.2 | 36.4 | 22–102 nmol/ml |
5-MTHF 5-Methyltetrahydrofolate, 5-HIAA 5-hydroxyindoleacetic acid, HVA homovanillic acid
*Plasma phenylalanine level was measured 1 week before CSF phenylalanine
a The patient was on folinic acid (10 mg), carbidopa/levodopa (2 mg/kg/day), and 5-hydroxytryptophan (2 mg/kg/day)
b The patient remained on folinic acid, carbidopa/levodopa, and 5-hydroxytryptophan