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Table 1 patient and sample inclusion

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

PatientSexAge (y)GeneCobalamin respPresentationNumber of AMD per patient yearNumber of samples
Targeted analysis clinical laboratoryTargeted metabolic assaysUntargeted DI-HRMS in plasmaUntargeted DI-HRMS in DBS
TotalNo AMDAMDTotalNo AMDAMDTotalNo AMDAMDTotalNo AMDAMD
P.01F19.6MUTNoEarly0.4217461996435201111501
P.02M11.9MUTNoLate0.943280695902019011100
P.03F11.0MUTYesLate0.166018171880770
P.04F7.2MUTNoLate0.5110220110000
P.05M7.5MUTYesLate2.1100600000000
P.06F20.2MMAAYesEarly0.1795217659118140770
P.07aF16.2MMAAYesEarly0.18737257410640330
P.08aMb, 0.3MMAAYesLate 000200000000
P.09M13.9MMAAYesLate0.1770770220220
P.10F11.1MMAAYesLate0.14403601113011911
P.11F40.6MMABYesLate0.02510016110210000
P.12M0.1MUTNoEarly 000700000000
P.13M37.3MMA, unclassYesEarly0.00001900000000
       5101872543524089060264302
P.14F23.1PA, unclass Early0.636918381063141802701
P.15aFb, 2.9PA, unclass Early4.133283000110000
P.16aM12.5PA, unclass Family2.49261921339121302
P.17F17.6PCCB Early0.7206623920929942404
P.18F17.9PCCA Early0.725164311285012371143004
P.19F8.6PCCB Early2.61575361413913702
P.20Mb, 7.5PCCB Early0.30001900000000
P.21F24.6PCCA Late0.21600700100000
P.22aMb, 19.1PCCB Late0.3801272201200000
P.23aM19.1PCCB Family0.1623246132119901100
P.24M20.4PCCA Late0.21101700400300
       12771601575279142139231595013
  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