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MR imaging and spectroscopy data for individual patients affected by tetrahydrobiopterin deficiency
Patient No.MR ImagesLactate PeakNAA:CRENAA:CHONAA:MIMI:CREMI:CHOCHO:CREPatient Age (yr) at MR ImagingPatient Age (yr) at IQ TestMR Image Phe (μmol/L)Average Phe (μmol/L)VIQPIQFSIQAverage Dosage (mg/kg/day)5-HTP
BH4Levodopa
1White matter T2 ↑+1.2591.4421.4440.8720.9990.8738.57.71771196455561.728.301.43
2Negative−1.553 ↑1.3891.1188.56.91081038486831.204.040.65*
3Negative−1.779 ↑1.5001.8880.9420.7941.1868.56.999695864571.747.841.21*
4Prominent sulcation+5.944 ↑10.30 ↑2.3162.5674.4470.57786.4651047483762.339.532.43
5Prominent sulcation−1.4872.659 ↑0.7991.8603.3280.55955.3451047882782.9210.532.19
6Negative−0.645 ↓0.681 ↓1.52354.08310292106982.259.351.49
7Negative−1.692 ↑3.192 ↑4.5770.3700.6970.53053.661068095921.949.022.64
8Negative−1.4521.525 ↑1.2481.1631.2220.952474622.319.422.07
  • Note.—NAA indicates N-acetylaspartate; CRE, creatine; CHO, choline; MI, myo-inositol; IQ, intelligence quotient; Phe, phenylalanine; VIQ, verbal intelligence quotient; PIQ, performance intelligence quotient; FSIQ, full-scale intelligence quotient; BH4, tetrahydrobiopterin; 5-HTP, 5-hydroxytryptophan.
  • ↵* Patients 2 and 3 stopped 5-HTP supplementation at the ages of 7 and 6 years, respectively.