Table 2. Clinical features of previously reported ACAD9 patients.

	Haack et al.2	Gerards et al.,1Scholte et al.5	Haack et al.3, 7	Nouws et al.4	Calvo et al.11
Clinical features
Gender	3 F/1 M	3 F/1 M	3M	3 F	1 M
Affected relatives		Consanguineous families	Yes	Twin sisters	No
Age at first symptoms	Neonatal 4/4	4y	Childhood (>3y)	8 m	Neonatal
		4y		6 m
				5 m
Current age	a7 w	Alive 27 y	Alive 12 y	Alive 18 y	a8 m
	a2 y	Alive 31 y	Alive 3 y	a8 m
	a12 y	Alive 38 y	Alive 5 y	a6 m
	alive 8 y	Alive 40 y
Early cardiac symptoms
Cardiac hypertrophy	4/4	1/4	3/3	3/3	1/1
Heart transplantation	−	−	−	−	−
Delayed neurological symptoms
Cognitive impairment	0/2	0/4	0/3	1/2
Seizures	0/4	1/3	0/3	0/1	0/1
Other organ involvement	Exercise intolerance (4/4)	Short stature (1/4)	Exercise intolerance (3/3)	Hepatopathy (3/3)Mild hearing loss,
		Exercise intolerance (4/4)		short stature (1/3)
				Exercise intolerance (1/3)
Laboratory
Plasma lactate (mmol/l)	4/4	4/4	3/3	3/3	1/1
Complex I deficiency
Muscle	13– 26%	11–72–9%	3%	31–61%
Fibroblasts	37–46%	40–38–50–100%		60%	Markedly reduced
Nucleotide change	c.130T>A	c.1594C>T	c.1594C>T	c.1553G>A	c.260T>A c.976G>A
	c.797G>A	c.1594C>T	c.1594C>T	c.1553G>A
	c.130T>A	c.1594C>T	c.1594C>T	c.187G>T
	c.797G>A	c.1594C>T	c.1594C>T	c.1237G>A
	c.797G>A	c.1594C>T	c.1594C>T	c.187G>T
	c.1249C>T	c.1594C>T	c.1594C>T	c.1237G>A
	c.976G>C	c.380G>A
	c.1594C>T	c.1405C>T
Aminoacid change	p.Phe44Ile	p.Arg532Trp	p.Arg532Trp	p.Arg518His	p.Ile87Asn
	p.Arg266Gln	p.Arg532Trp	p.Arg532Trp	p.Arg518His	p.Ala326Pro
	p.Phe44Ile	p.Arg532Trp	p.Arg532Trp	p.Glu63*
	p.Arg266Gln	p.Arg532Trp	p.Arg532Trp	p.Glu413Lys
	p.Arg266Gln	p.Arg532Trp	p.Arg532Trp	p.Glu63*
	p.Arg417Cys	p.Arg532Trp
	p.Ala326Pro	p.Arg127Gln	p.Arg532Trp	p.Glu413Lys
	p.Arg532Trp	p.Arg469Trp

Abbreviations: CH, cardiac hypertrophy; d, day; NA, not applicable; nr, not relevant; N, normal; nd, not done; m, month; POF, premature ovarian failure; w, week; y, year.

^aDeceased. ACAD9 reference sequence is NM_014049.4.