Table 2.

Clinical findings in patients with complex I deficiency due to mutations in ACAD9

Publication	Amino acid substitutions	Pregnancy duration	Age on onset	Age of death	Alive at	Riboflavin therapy	Neurological symptoms	Brain abnormalities	Seizures	Psychiomotor dev. delay	Hypotonia	Hearing loss	Respiratory problems	Tachypnea	Dyspnoea	Respiratory disturbance	Other organ failure	Hyperthrophic cardiomyopathy	Hepatomology	Other	Failure to thrive	Exercise intolerance	Short stature
Nouws et al. 2010	Arg518His (I-1)	Term	8 m		18 y			–	–	–	–	+		+	–	–		+	+		+	+	+
	Glu63X and Glu413Lys (II-1)	35	4 m	6 m				+		–								+			+
Haack et al. 2010	Phe44Ile and Arg266Gln (I:A)	39 w + 6 d	24 h	46 d		+		+		–	+					+		+			–	–
	Phe44Ile and Arg266Gln (I:B)		Birth		5 y	+		+		–	–							+			–	+
	Arg266Gln and Arg417Cys (II)		Birth	12 y						–	–							+			–	–
	Ala326Pro and Arg532Trp (III)		Birth	2 y						+	–							+			+	–
Gerards et al. 2011, Scholte et al. 1995	Arg532Trp (VII-6)		4 y		31 y	+		–			–	–						–	–		–	+	+
	Arg532Trp (VII-8)		4 y		38 y	+		–	+		v	–						–	–		–	+
	Arg532Trp (VII-11)		4y		40 y	+		–	+		–	–						–	–		–	+
	Arg127Gln and Arg469Trp (CV)		Early CH		27 y	+		–	–		–	–			+			–	–		–	+
Haack et al. 2012	Arg532Trp (59029)										+							+				+
	Arg532Trp (59033)										+							+				+
	Arg532Trp (59036)										+							+				+
This report	Ala220Val	41 w + 4 d	Birth	6 m		–		–	–	+	+			+		+		+	+		+		–

Dev. developmental, + symptom present, – symptom absent, empty box if information is not available, CH childhood, d days, w weeks, m months, y years