Table 1.

Clinical and mutational spectrum of published ACAD9 deficiency cases.

Author	Gender	Age	Mutation	Initial or most prominent symptoms	Age at onset	Blood lactate (mmol/dL)
He M et al. [17]	Male	Died at 14 years	TAAG insertion 44 bp upstream of first ATG	Reye-like episodes, cerebellar stroke	14 years	10.8
	Female	10 years	Exon 3 deletion	Acute liver dysfunction, hypoglycemia	4 months	N/A
	Female	Died at 4.5 years	N/A	Cardiomyopathy with dilated left ventricle	4.5 years	N/A
Haack TB et al. [15]	Female	Died at 46 days	F44I; R266Q	Cardiorespiratory depression, hypertrophic cardiomyopathy, encephalopathy, lactic acidosis,	Birth	elevated
	Male	5 years	F44I; R266Q	Hypertrophic cardiomyopathy, mild exercise intolerance, persistent lactic acidosis	Birth	elevated
	Female	Died at 12 years	R266Q; R417C	Hypertrophic cardiomyopathy, encephalomyopathy, lactic acidosis	Birth	elevated
	Female	Died at 2 years	A326P: R532W	Hypertrophic cardiomyopathy, encephalopathy, lactic acidosis	Birth	elevated
Dewulf et al. [9]	Female	Died at 5 months	N/A	Congenital cardiac and facial malformations, intractable pulmonary hypertension	Birth	17.4
	Female	Died at 10.5 months	Homozygous V546L	Failure to thrive, colitis, recurrent infections, hypertrophic cardiomyopathy, lactic acidosis	2 months	20.8
	Male	Died at 9 months	Homozygous V546L	Failure to thrive, hypotonia, ulcerative colitis, hypertrophic cardiomyopathy, lactic acidosis	15 days	8.2
	Female	7 years	Homozygous V546L	Failure to thrive, recurrent infections, hypertrophic cardiomyopathy (dx at 4 years)	15 months	N/A
	Male	25 years	A170V; H563D	Growth retardation, exercise intolerance	12 years	12.48
	Female	22 years	A170V; H563D	Exercise intolerance, learning difficulty	8 years	4.42
	Female	Died at 9 days	R414S; L558X	Hypothermia, hypoglycemia, lactic acidosis	Birth	24.3
	Female	Died at 2 days	R414S; L558X	Right ventricular hypertrophy, other congenital cardiac defects, and lactic acidosis	Birth	60.94
	Female	Died at 6 months	R414S; L558X	Hypertrophic cardiomyopathy, lactic acidosis	Birth	25.27
Garone et al. [12]	Male	13 years	Homozygous R414C	Psychomotor delay, proximal muscle weakness, generalized hypotonia, ataxic gait, bradykinesia and bradylalia, scoliosis, and truncal obesity	1 years	10
Gerards et al. [13] & Scholte et al. [31]	Female	15 years	Homozygous R532W	Easy fatigability, exercise intolerance, stroke like episode	After 4 years	6.5
	Male	22 years	Homozygous R532W	Easy fatigability, exercise intolerance,	After 4 years	2.7
	Female	24 years	Homozygous R532W	Easy fatigability, exercise intolerance,	After 4 years	3
Leslie et al. [20]	Male	Died at 1 day	L314P; E63X	Respiratory distress, hypotonia, hepatomegaly, liver and cardiac failure	Birth	N/A
Nouws et al. [26]	Female	18 years	Homozygous R518H	Failure to thrive, hepatomegaly, hypertrophic cardiomyopathy	1 month	7.6
	Female	Died at 8 months	E413K; E63X	Feeding difficulty, encephalopathy, hypertrophic cardiomyopathy	4 months	N/A
Nouws et al. [24]	Female	Died at 6 months	Homozygous A220V	Hypertrophic cardiomyopathy, muscle weakness, hypotonia	7 weeks	20
Our case	Female	5 years	V59F; L166W	Failure to thrive, dystonic posturing, neck and trunk hypotonia, microcephaly, lactic acidosis	11 months	5.4