Supplemental Table 1 s1

Free carnitine Gender Age Genotype Symptoms (fC0) Years μmol/L male 2 c.95A>G/ c.95A>G 1.6 asymptomatic male 3 other genotype 4.5 asymptomatic male 4 c.95A>G/ c.95A>G 1.5 asymptomatic male 4 other genotype 1.8 symptoms male 7 other genotype 2.8 asymptomatic male 7 other genotype 4.6 symptoms male 15 c.95A>G/ c.95A>G 1.6 asymptomatic male 15 other genotype 5.7 asymptomatic male 17 c.95A>G/ c.95A>G 3.1 symptoms male 19 other genotype 3.7 asymptomatic male 19 other genotype 4.7 symptoms male 20 c.95A>G/ c.95A>G 1.3 symptoms male 20 c.95A>G/ c.95A>G 1.8 symptoms male 20 other genotype 3.8 asymptomatic male 23 c.95A>G/ c.95A>G 1.4 asymptomatic male 23 c.95A>G/ c.95A>G 2.8 asymptomatic male 24 other genotype 3.8 asymptomatic male 26 c.95A>G/ c.95A>G 2.2 symptoms male 26 other genotype 4.5 symptoms male 27 other genotype 3.2 symptoms male 27 other genotype 4.0 N/A male 30 c.95A>G/ c.95A>G 1.9 asymptomatic male 30 other genotype 6.8 asymptomatic male 32 other genotype 2.7 symptoms male 32 other genotype 3.4 asymptomatic male 32 other genotype 5.6 asymptomatic male 33 other genotype 2.1 asymptomatic male 33 other genotype 8.2* asymptomatic male 34 other genotype 4.2 asymptomatic male 35 other genotype 2.6 asymptomatic male 36 other genotype 4.5 asymptomatic male 37 other genotype 2.8 asymptomatic male 41 other genotype 3.0 symptoms male 43 other genotype 5.8 asymptomatic male 43 other genotype 5.8 asymptomatic male 45 c.95A>G/ c.95A>G 1.9 symptoms male 45 other genotype 6.2 asymptomatic male 46 other genotype 4.6 asymptomatic male 47 other genotype 4.0 asymptomatic male 49 other genotype 4.0 asymptomatic male 51 other genotype 4.0 symptoms male 52 other genotype 4.4 asymptomatic male 66 other genotype 5.8 asymptomatic male 69 c.95A>G/ c.95A>G 3.2 asymptomatic male 74 other genotype 3.1 asymptomatic male 79 c.95A>G/ c.95A>G 3.3 asymptomatic female 5 c.95A>G/ c.95A>G 1.8 symptoms female 5 c.95A>G/ c.95A>G 2.0 symptoms female 7 other genotype 3.8 asymptomatic female 7 other genotype 4.3 asymptomatic female 13 c.95A>G/ c.95A>G 1.5 asymptomatic female 15 other genotype 1.7 asymptomatic female 15 other genotype 2.7 asymptomatic female 17 other genotype 4.6 asymptomatic female 19 other genotype 3.2 symptoms female 19 other genotype 3.2 symptoms female 20 other genotype 3.6 symptoms female 21 other genotype 1.9 symptoms female 22 other genotype 3.4 symptoms female 25 c.95A>G/ c.95A>G 2.6 symptoms female 25 other genotype 3.6 symptoms female 26 other genotype 3.1 symptoms female 26 other genotype 3.2 symptoms female 28 other genotype 3.7 symptoms female 29 c.95A>G/ c.95A>G 1.4 asymptomatic female 29 other genotype 2.4 symptoms female 35 other genotype 10.3* asymptomatic female 37 other genotype 5.6 asymptomatic female 40 other genotype 7.9* symptoms female 41 other genotype 3.0 asymptomatic female 42 other genotype 2.5 asymptomatic female 42 other genotype 3.0 asymptomatic female 42 other genotype 4.5 symptoms female 44 other genotype 2.7 symptoms female 45 other genotype 4.3 symptoms female 47 other genotype 4.9 asymptomatic female 48 other genotype 2.7 asymptomatic female 51 other genotype 4.1 asymptomatic female 53 other genotype 3.1 symptoms female 53 other genotype 6.3 asymptomatic female 55 c.95A>G/ c.95A>G 1.3 symptoms female 55 other genotype 2.3 symptoms female 55 other genotype 4.0 asymptomatic female 55 other genotype 6.3 symptoms female 57 other genotype 3.3 symptoms female 58 other genotype 3.1 asymptomatic female 58 other genotype 3.6 asymptomatic female 72 other genotype 5.3 asymptomatic female 78 c.95A>G/ c.95A>G 2.2 asymptomatic Supplemental table 1. Characterization of all patients participating in the screening program and diagnosed with PCD (n=89). *had taken L-carnitine supplementation.