Reference | This report | Peters et al.201 4[1] | Sakai et al.2014 [2] | Haack et al.2015 [3] | ||||||
Patient ID | Patient 1 | Patient 2 | Patient 1 | Patient 2 | Paient 1 | F1,II:2 | F2,II:1 | F3,II:6 | F4,II:1 | |
Genetic mutation Protein effect | c.161G>A/c.414 + 1G>A p.Arg54His/− | c.74G>A/c.74G>A p.R25H/p.R25H | c.473C > A/c.414 + 3G > C p.Ala158Asp/splicing | c.473C > A/c.414 + 3G > C; p.Ala158Asp/splicing | c.2 T > G’/c.5C > T; p.Met1Arg/p.Ala2Val | c.176A > G/c.476A > G; p.Asn59Ser/p.Gln159Arg | c.197 T > C/c.449A > G; p.Ile66Thr/p.Asp150Gly | c.476A > G/c.476A > G; p.Gln159Arg/p.Gln159Arg | c.161G > A/c.817A > G; p.Arg54His/p.Lys273Glu | |
Gender | F | M | F | M | M | F | M | F | M | |
Age of onset; | 8 months | 2 years | Birth | Birth | 2 months | Birth | Birth | Birth | Birth | |
Death | Alive at 2 years | Alive at 5.2 years | 4 months | 8 months | Alive at 4 years | 4 months | 11 months | 2.3 years | 7.5 years | |
Developmentaldelay/regression | + | + | NL | + | + | NL | + | + | + | |
Hearing loss | – | – | NL | NL | + | + | + | NL | NL | |
Optic atrophy | ND | – | NL | NL | NL | NL | + | NL | NL | |
Epilepsy | – | – | NL | NL | NL | + | + | + | + | |
Dystonia | + | + | NL | NL | NL | NL | + | + | + | |
Nystagmus | + | – | NL | + | + | NL | NL | NL | NL | |
Cardiomyopathy | ND | ND | – | HCM | – | HCM | HCM | ND | – | |
MRI: basal ganglia T2 hyperintensity | + | + | + | – | + | + | + | + | NL | |
MRS: lactate | + | ND | + | + | NL | NL | + | – | – | |
Elevated plasmalactate | + | – | + | + | + | + | + | + | NL | |
Elevated pyruvate | + | – | + | + | NL | NL | NL | ND | ND | |
Urinary 2-methyl, 2,3-dihydroxybutyrate | + | + | + | + | NL | ND | – | ND | ND | |
SCPCM/SCPC/ N-acetyl-SCPC | ND | SCPCM+ | SCPCM+;SCPC+ | SCPCM+;SCPC+ | ND | ND | ND | ND | ND | |
Reference | Haack et al.2015 [3] | Ferdinandusse et al.2015 [4] | ||||||||
Patient ID | F5,II:3 | F6,II:1 | F7,II:2 | F8,II:1 | F9,II:2 | F10,II:1 | Patient 1 | Patient 2 | Patient3 | |
Genetic mutation Protein effect | c.673 T > C/c.673 T > C; p.Cys225Arg/p.Cys225Arg | c.98 T > C/c.176A > G; p.Phe33Ser/p.Asn59ser | c.268G > A/c.583G > A; p.Gly90Arg/p.Gly195Ser | c.161G > A/c.394G > A; p.Arg54His/p.Ala132Thr | c.161G > A/c.431up; p.Arg54His/p.Leu145Alafs*6 | c.229G > C/c.476A > G; p.Glu77Gln/p.Gln159Arg | c.817A > G/c.817A > G; p.Lys273Glu/p.Lys273Glu | c.817 > G/c.817A > G; p.Lys273Glu/p.Lys273Glu | c.433C > T/c.476A > G; p.Leu145Phe/p.Gln159Arg | |
Gender | F | F | F | F | F | F | F | F | F | |
Age of onset; | Birth | Birth | 2 years | 1 Year | Birth | 11 months | Birth | Birth | Early infancy | |
Death | Alive at2 years | Aliveat 3 years | Alive at 5 years | Alive at 8 years | Alive at 16 years | Alive at 31 years | 24 h | 2 days | Alive at 7 years | |
Developmentaldelay/regression | + | + | + | + | + | + | NL | NL | + | |
Hearing loss | NL | + | + | + | + | + | NL | NL | + | |
Optic atrophy | NL | NL | – | – | + | + | NL | NL | + | |
Epilepsy | + | + | – | + | – | + | NL | NL | NL | |
Dystonia | – | + | + | – | + | + | NL | NL | + | |
Nystagmus | NL | NL | NL | NL | + | + | NL | NL | NL | |
Cardiomyopathy | HCM | DCM | ND | NL | – | – | + | – | NL | |
MRI: basal ganglia T2 hyperintensity | + | + | + | NL | + | + | NL | + | NL | |
MRS: lactate | – | NL | + | NL | + | – | NL | NL | NL | |
Elevated plasmalactate | + | + | – | + | + | + | + | + | + | |
Elevated pyruvate | + | ND | – | NL | NL | NL | + | + | ND | |
Urinary 2-methyl, 2,3-dihydroxybutyrate | + | ND | + | ND | ND | – | + | + | + | |
SCPCM/SCPC/ N-acetyl-SCPC | ND | ND | ND | SCPCM+ | SCPCM+ | ND | ND | ND | SCPCM+;SPCP+ | |
Reference | Ferdinandusse et al.2015 [4] | Tetreault et al.2015 [5] | Yamada et al.2015 [6] | Ganetzky et al.2016 [7] | ||||||
Patient ID | Patient4 | P1 | P2 | P3 | P4 | III-2 | III-3 | Patient 1 | Patient 2 | |
Genetic mutation Protein effect | c.673 T > C/c.674G > C; p.Cys225Arg/p.Cys225Ser | c.538A > G/c.583G > A; p.Thr180Ala/p.Gly195Ser | c.538A > G/c.713C > T; p.Thr180Ala/p.Ala238Val | c.538A > G/c.713C > T; p.Thr180Ala/p.Ala238Val | c.538A > G/c.476A > G; p.Thr180Ala/p.Gln159Arg | c.176A > G/c.413C > T; p.Asn59Ser/p.Ala138Val | c.176A > G/c.413C > T; p.Asn59Ser/p.Ala138Val | c.8C > A/c.389 T > A; p.Ala3Asp/p.Val130Asp | c.8C > A/c.389 T > A; p.Ala3Asp/p.Val130Asp | |
Gender | M | F | M | M | F | F | M | M | F | |
Age of onset; | 1 year | 2.5 months | 2.9 years | 10 months | 6 months | 10 months | 7 months | Prenatal | Prenatal | |
Death | Alive at 1 year | 10 months | Alive at 18 years | Alive at 12 years | Alive at 12 years | Alive at 7 years | 5 years | 16 h | 24 h | |
Developmental delay/regression | + | + | + | + | + | + | + | NL | NL | |
Hearing loss | NL | – | + | + | + | – | NL | NL | NL | |
Optic atrophy | + | – | + | + | + | NL | NL | NL | NL | |
Epilepsy |  | NL | NL | NL | NL | – | – | NL | NL | |
Dystonia | + | – | + | – | + | + | + | NL | NL | |
Nystagmus | NL | + | + | + | + | NL | NL | NL | NL | |
Cardiomyopathy | NL | NL | NL | NL | NL | ND | ND | DCM | DCM | |
MRI: basal ganglia T2 hyperintensity | + | + | + | + | + | + | + | NL | NL | |
MRS: lactate | + | + | – | – | – | NL | NL | NL | NL | |
Elevated plasmalactate | + | + | + | + | – | – | – | + | + | |
Elevated pyruvate | ND | NL | NL | NL | N/A | + | NL | + | + | |
Urinary 2-methyl, 2,3-dihydroxybutyrate | + | ND | ND | ND | ND | – | + | ND | + | |
SCPCM/SCPC/ N-acetyl-SCPC | SCPCM+;SPCP+ | ND | ND | ND | ND | N-acetyl-SPCPM+ | N-acetyl-SPCPM+ | ND | ND | |
Reference | Nair et al.2016 [8] | Olgiati et al.2016 [9] | Mahajan et al.2017 [10] | Bedoyan etal.2017 [11] | Huffnagel etal.2017 [12] | Al Mutairi et al.2017 [13] | Balasubramaniam et al.2017 [14] | |||
Patient ID | Patient 1 | II-1 | II-2 | Patient1 | Patient1 | Patient1 | Patient 1 | Patient 2 | Patient1 | |
Genetic mutation Protein effect | c.842A > G/c.842A > G; p.Glu281Gly/p.Glu281Gly | c.232G > T/c.518C > T; p.Glu78Ter/p.Ala173Val | c.232G > T/c.518C > T; p.Glu78Ter/p.Ala173Val | c.518C > T/c.817A > G; p.Ala173Val/p.Lys273Glu | c.836 T > C/c.8C > A; p.Phe279Ser/p.Ala3Asp | c.229G > C/c.563C > T p.Glu77Gln/p.Ala188Val | c.88 + 5G > A/c.88 + 5G > A; p.Ala31Glufs*23/p.Ala31Glufs*23 | c.88 + 5G > A/c.88 + 5G > A; p.Ala31Glufs*23/p.Ala31Glufs*23 | c.476A > G/c.538A > G; p.Gln159Arg/p.Thr180Ala | |
Gender | F | M | M | M | M | F | F | M | F | |
Age of onset; | Birth | 3.5 years | 4.5 years | 8 years | Birth | 6 weeks | Birth | Birth | 17 months | |
Death | 24 h | Alive at 17 years | Alive at 15 years | Alive at 8 years | 39 days | Alive at 26 years | 2 days | 8 h | Alive at 4.5 years | |
Developmentaldelay/regression | + | + | – | NL | NL | + | NL | NL | + | |
Hearing loss | NL | NL | – | NL | + | – | NL | NL | – | |
Optic atrophy | NL | NL | – | NL | – | + | NL | NL | – | |
Epilepsy | NL | – | – | NL | NL | – | NL | NL | NL | |
Dystonia | NL | + | + | + | + | + | NL | NL | + | |
Nystagmus | NL | NL | – | NL | NL | + | NL | NL | NL | |
Cardiomyopathy | – | NL | NL | NL | ND | – | ND | ND | NL | |
MRI: basal ganglia T2 hyperintensity | NL | + | + | + | + | + | ND | ND | + | |
MRS: lactate | NL | – | NL | NL | + | – | ND | ND | NL | |
Elevated plasmalactate | + | – | – | – | + | + | + | + | + | |
Elevated pyruvate | – | – | – | ND | + | – | + | NL | – | |
Urinary 2-methyl, 2,3-dihydroxybutyrate | + | – | – | ND | + | ND | ND | ND | ND | |
SCPCM/SCPC/ N-acetyl-SCPC | ND | SPCPM+; N-acetyl-SPCPM+ | SPCPM+; N-acetyl-SPCPM+ | ND | ND | SCPCM+;SCPC+; N-acetyl-SCPC+ | ND | ND | ND | |
Reference | Ogawa et al.2017 [15] | Fitzsimons et al.2018 [16] | Carlston et al.2018 [17] | Shayota et al.2018 [18] | ||||||
Patient ID | Pt376 | Pt536 | Pt1038 | Pt1135 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 1 | Patient1 |
Genetic mutation Protein effect | c.98 T > C/c.176A > G; p.Phe33Ser/p.Asn59Ser | c.5C > T/c.1A > G; p.Ala2Val/p.Met1Val | c.5C > T/c.176A > G; p.Ala2Val/p.Asn59Ser | c.5C > T/c.176A > G; p.Ala2Val/p.Asn59Ser | c.476A > G,/c.476A > G; p.Gln159Arg/p.Gln159Arg | c.538A > G/ c.538A > G, p.Thr180Ala/p.Thr180Ala | c.538A > G/ c.538A > G, p.Thr180Ala/p.Thr180Ala | c.538A > G/ .538A > G, p.Thr180Ala/p.Thr180Ala | c.79 T > G/c.789_790del; p.Phe27Val/p.Phe263fs | c.538A > G/c.444G > T p.T180A/p.M148I |
Gender | NL | NL | NL | NL | M | M | F | M | M | M |
Age of onset; | NL | NL | NL | NL | 5 months | 3 months | 5 months | 2 weeks | 1 year | 2.5 months |
Death | NL | NL | NL | NL | 4 years | 21 months | 28 months | 13 months | 9 years | Alive at 15 months |
Developmentaldelay/regression | NL | NL | NL | NL | + | + | + | + | + | + |
Hearing loss | NL | NL | NL | NL | NL | NL | NL | NL | + | ND |
Optic atrophy | NL | NL | NL | NL | NL | NL | NL | NL | – | ND |
Epilepsy | NL | NL | NL | NL | + | + | + | + | – | + |
Dystonia | NL | NL | NL | NL | + | + | + | + | – | + |
Nystagmus | NL | NL | NL | NL | + | NL | NL | NL | NL | NL |
Cardiomyopathy | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND |
MRI: basal ganglia T2 hyperintensity | ND | ND | ND | ND | + | + | + | + | + | + |
MRS: lactate | ND | ND | ND | ND | + | + | – | + | + | NL |
Elevated plasmalactate | ND | ND | ND | ND | + | + | + | + | – | + |
Elevated pyruvate | ND | ND | ND | ND | ND | ND | ND | ND | – |  |
Urinary 2-methyl, 2,3-dihydroxybutyrate | ND | ND | ND | ND | + | + | + | + | – | ND |
SCPCM/SCPC/ N-acetyl-SCPC | ND | ND | ND | ND | SPCP+ | ND | ND | SPSP+ | ND | ND |