Skip to main content

Table 1 patient and sample inclusion

From: Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Patient Sex Age (y) Gene Cobalamin resp Presentation Number of AMD per patient year Number of samples
Targeted analysis clinical laboratory Targeted metabolic assays Untargeted DI-HRMS in plasma Untargeted DI-HRMS in DBS
Total No AMD AMD Total No AMD AMD Total No AMD AMD Total No AMD AMD
P.01 F 19.6 MUT No Early 0.4 217 46 19 96 43 5 20 11 1 15 0 1
P.02 M 11.9 MUT No Late 0.9 43 28 0 69 59 0 20 19 0 11 10 0
P.03 F 11.0 MUT Yes Late 0.1 6 6 0 18 17 1 8 8 0 7 7 0
P.04 F 7.2 MUT No Late 0.5 1 1 0 2 2 0 1 1 0 0 0 0
P.05 M 7.5 MUT Yes Late 2.1 1 0 0 6 0 0 0 0 0 0 0 0
P.06 F 20.2 MMAA Yes Early 0.1 79 52 1 76 59 1 18 14 0 7 7 0
P.07a F 16.2 MMAA Yes Early 0.1 87 37 2 57 41 0 6 4 0 3 3 0
P.08a M b, 0.3 MMAA Yes Late   0 0 0 2 0 0 0 0 0 0 0 0
P.09 M 13.9 MMAA Yes Late 0.1 7 7 0 7 7 0 2 2 0 2 2 0
P.10 F 11.1 MMAA Yes Late 0.1 44 0 3 60 1 1 13 0 1 19 1 1
P.11 F 40.6 MMAB Yes Late 0.0 25 10 0 16 11 0 2 1 0 0 0 0
P.12 M 0.1 MUT No Early   0 0 0 7 0 0 0 0 0 0 0 0
P.13 M 37.3 MMA, unclass Yes Early 0.0 0 0 0 19 0 0 0 0 0 0 0 0
        510 187 25 435 240 8 90 60 2 64 30 2
P.14 F 23.1 PA, unclass   Early 0.6 369 18 38 106 3 14 18 0 2 7 0 1
P.15a F b, 2.9 PA, unclass   Early 4.1 33 28 3 0 0 0 1 1 0 0 0 0
P.16a M 12.5 PA, unclass   Family 2.4 92 6 19 21 3 3 9 1 2 13 0 2
P.17 F 17.6 PCCB   Early 0.7 206 6 23 92 0 9 29 9 4 24 0 4
P.18 F 17.9 PCCA   Early 0.7 251 64 31 128 50 12 37 11 4 30 0 4
P.19 F 8.6 PCCB   Early 2.6 157 5 36 14 1 3 9 1 3 7 0 2
P.20 M b, 7.5 PCCB   Early 0.3 0 0 0 19 0 0 0 0 0 0 0 0
P.21 F 24.6 PCCA   Late 0.2 16 0 0 7 0 0 1 0 0 0 0 0
P.22a M b, 19.1 PCCB   Late 0.3 80 1 2 72 2 0 12 0 0 0 0 0
P.23a M 19.1 PCCB   Family 0.1 62 32 4 61 32 1 19 9 0 11 0 0
P.24 M 20.4 PCCA   Late 0.2 11 0 1 7 0 0 4 0 0 3 0 0
        1277 160 157 527 91 42 139 23 15 95 0 13
  1. Subtotals are depicted in bold. aP.07 and P.08, P.15 and P.16, and P.22 and P.23 are pairs of siblings. Early onset: presentation < 28 days of life; Late onset: presentation > 28 days of life. Family: diagnosis at birth through an affected sibling. Abbreviations: AMD acute metabolic decompensation, F female, M male, unclass genetic defect is unclassified, (y) years; bpassed away