Table 1.

Clinical phenotype of twenty five patients with mutations in SUCLG1.

	Sex	Age at onset	Status	Hypotonia	Hearing loss	MCAs	EEG/MRI	RS	Lactate	MMA	Genotype	Amino acid change	Allele Phase	Source
P1	F	Day of life 1	Died on day 3	Yes	No	No	Abnormal	Yes	E	E(M)	c.112_113del	p.Ile38Serfs*15	Homozygous	Ostergaard et al, 2007
P2	M	Day of life 1	Died on day 4	Yes	No	No	Abnormal	Yes	E	E(M)	c.112_113del	p.Ile38Serfs*15	Homozygous	Ostergaard et al, 2007
P3	F	Day of life 1	Died on day 2	Yes	No	No	NA	Yes	E	E(M)	c.112_113del	p.Ile38Serfs*15	Homozygous	Ostergaard et al, 2007
P4	M	3mo	Died at 3yrs	Yes	Yes	No	Abnormal	Yes	E(M)	E(M)	c.215G>C	p.Gly72Ala	Homozygous	Ostergaard et al, 2010
P5	M	Day of life 1	Died on day 3.5	Yes	No	Yes	NA	Yes	E	E(M)	c.626C > A	p.Ala209Glu	Homozygous	Rivera et al.2010
P6	F	Day of life 1	Died on day 3	Yes	No	Yes	NA	Yes	E	E(M)	c.626C > A	p.Ala209Glu	Homozygous	Rivera et al.2010
P7	M	Day of life 1	Died at 1yr	Yes	No	No	Abnormal	Yes	E	E(M)	c.509C>G & c.97+3G>C	p.Pro170Arg & Aberrant splicing	Compound heterozygous	Rouzier et el., 2010
P8	M	3mo	Alive at 12yrs	Yes	No	No	Abnormal	Yes	E	E(M)	c.448C>T	p.Gln150×	Heterozygous(2nd allele unidentified)	Rouzier et el., 2010
P9	M	2mo	Alive at 9yrs	Yes	No	No	Abnormal	No	E	E(M)	c.626C > A (p.Ala209Glu)	p.Ala209Glu	Heterozygous(2nd allele unidentified)	Valayannopoulos et al., 2010
P10	M	3mo	Alive at 5.5yrs	Yes	No	No	Abnormal	No	E	E(M)	c.309_3 10delTG & c.428T > G	p.Thr103fs & p.Ile143Ser	Compound heterozygous	Valayannopoulos et al., 2010
P11	F	5mo	Died at 18mo	Yes	No	No	Abnormal	Yes	E	NA	c.137C > T	p.Ser46Phe	Homozygous	Valayannopoulos et al., 2010
P12	F	Day of life 1	Died at 17mo	Yes	Yes	No	Abnormal	Yes	E	E(M)	c.40A>T	p.Met14Leu	Homozygous	Van Hove, et al, 2010
P13	F	At birth	Died at 10mo	Yes	No	Yes	NA	NA	E	E(M)	c.280-1G>A	Aberrant splicing	Homozygous	Randolph et al, 2011
P14	F	Day of life 2	Died at 20mo	Yes	Yes	No	NA	Yes	E	E(M)	c.41T > C & c.599C > T	p.Met14Leu & p.Ser200Phe	Compound heterozygous	Sakamoto et al., 2011
P15	F	1mo	Alive at 20yrs	Yes	Yes	No	Abnormal	No	E(M)	E(M)	c.626C>A & c.531+4A>T	p.Ala209Glu & Aberrant splicing	Compound heterozygous	Navarro-Sastre et al., 2012
P16	M	Day of life 1	Died at 1mo	Yes	NA	Yes	Abnormal	Yes	E	E(M)	c.749ANG	p.Glu263Gly	Homozygous	Landsverk et. al., 2014
P17	M	6 mo	Alive at 2yrs 4mo	Yes	No	No	Normal	No	E	E(M)	c.809A>C & c.826-2A>G	p.Leu270Trp & Aberrant splicing	Compound heterozygous	Liu Y. et al., 2015
P18	M	4 mo	Alive at 3yrs 6mo	Yes	No	No	Abnormal	No	E	E(M)	c.550G>A & c.826-2A>G	p.Gly184Ser & Aberrant splicing	Compound heterozygous	Liu Y. et al., 2015
P19	F	Neonate	Alive at 2yrs 9mo	Yes	No	No	Abnormal	No	E	E(M)	c.751C>T & c.961C>G	p.Gly251Ser & p.Ala321Pro	Compound heterozygous	Liu Y. et al., 2015
P20	F	1–2yrs	Alive at 21 yrs	Yes	Yes	No	NA	No	Normal	E(M)	c.212A>G	p.His71Arg	Homozygous	Carrozzo et al., 2016
P21	F	Day of life 1	Alive at 6 yrs	Yes	Yes	No	Abnormal	No	Normal	E(M)	c.215G>C	p.Gly72Ala	Homozygous	Carrozzo et al., 2016
P22	M	4 mo	Died at 21 mo	Yes	NA	No	Abnormal	NA	NA	NA	c.215G>C	p.Gly72Ala	Homozygous	Carrozzo et al., 2016
P23	M	Day of life 1	Died at 8 mo	Yes	NA	Yes	Abnormal	Yes	E	NA	c.787G>A & c.626C>A	p.Glu263Lys & p.Ala209Glu	Compound heterozygous	Carrozzo et al., 2016
P24	F	2mo	Alive at 10 mo	Yes	Yes	No	Abnormal	Yes	E(M)	NA	c.137C > T	p.Ser46Phe	Homozygous	Carrozzo et al., 2016
P25	F	14 mo	Alive at 10 yrs	Yes	Yes	No	Normal	No	Normal	E(M)	c.40A>T & c.635A>G	p.Met14Leu & p.Gln212Arg	Compound heterozygous	Current study

Abbreviations are as follows: F, female; M, male; mo, months; E, elevated; E(M), moderately elevated; NA, not available; MMA, methylmalonic acid; SCS, succinylcoA-synthetase; RS, respiratory support; ETC, electron transport chain; MCAs, Multiple congenital abnormalities