Supplementary Table 1. Mean BMD Z-Scores in Males and Females with PAH Deficiency

Supplementary Table 1. Mean BMD Z-scores in males and females with PAH Deficiency

Males (n=34) / Females (n=54)
Characteristic / N (%) / BMD Z-score Mean (SD) / N (%) / BMD Z-score Mean (SD) / p-value
Age category (years) / 0.011
4-9 years / 14 (41%) / 0.057 (0.640) / 5 (9%) / -0.840 (0.879) / 0.026
10-15 years / 7 (21%) / -1.314 (0.925) / 15 (28%) / -0.260 (0.792) / 0.012
16-19 years / 4 (12%) / -1.050 (1.328) / 16 (30%) / 0.219 (1.412) / 0.123
20 years / 9 (26%) / -0.789 (1.144) / 18 (33%) / -0.244 (0.745) / 0.15
Body mass index (kg/m2)a / 0.30
Underweight (<18.5) / 4 (12%) / -0.875 (2.179) / 1 (2%) / 0.300 / 0.66
Normal (18.5-24.9) / 17 (50%) / -0.388 (0.857) / 28 (54%) / -0.493 (0.699) / 0.66
Overweight (25-29.9) / 7 (21%) / -1.086 (1.032) / 13 (25%) / 0.477 (1.499) / 0.02
Obese (>30) / 6 (17%) / -0.333 (0.539) / 10 (19%) / 0.110 (0.615) / 0.17
Plasma phenylalanine / 0.61
Treatment range (120-360) / 6 (18%) / 0.267 (0.859) / 12 (22%) / -0.412 (1.638) / 0.67
Above range (>360) / 28 (82%) / -0.761 (1.019) / 42 (78%) / -0.202 (0.804) / 0.013
Serum vitamin D (ng/mL)b / 0.93
Normal (30/Quest ref1) / 30 (88%) / -0.617 (1.012) / 40 (82%) / -0.233 (1.057) / 0.41
Insufficient (20-30) / 0 (0%) / -- / 7 (14%) / 0.157 (1.026) / --
Deficient (20/Quest ref1) / 3 (12%) / -0.300 (1.517) / 2 (4%) / 0.750 (0.212) / 0.13

aFor patients under 16 years of age, BMI Z-score calculated using CDC references and assigned: <5%ile underweight, 5-85%ile normal weight, 85-95%ile overweight, >95%ile obese; BMI Calculator: http://www.quesgen.com/BMIPedsCalc.php

bFor Kuvan study, Quest Diagnostic reference ranges used to calculate subjects as normal 1,25 dihydroxy-vitaminD or below reference range