European Journal of Human Genetics

Table 1 Main clinical symptoms and routine blood test results when symptomatic of mitochondrial fatty acid oxidation disorders (FAOD).

From: Improving diagnosis of mitochondrial fatty-acid oxidation disorders

Disorder	Full-name	Gene(s)	Age of onset of first symptoms			Clinical symptoms							Routine blood test results
			Neonates- Infants <2 years	2–11 years	>11 years	Sudden death or Life threatening events	Liver. hepatomegaly, steatosis	Muscle. weakness, pain, rhabdomyolysis	Heart. hypertrophic cardiomyopathy without arterial hypertension, heart failure, arrythmia	Ocular. retinitis pigmentosa	Neurological. peripheral neuropathy, seizures	Renal. tubular acidosis	Hypoketotic hypoglycaemia	↑ Ammonia (neonates / infants)	↑ ALAT +/− ASAT	↑ Lactic acid (neonates / infants)	↑ Creatine kinase	Anaemia	Hyper-insulinism
CACT	Carnitine-acylcarnitine translocase deficiency	SLC25A20	+			+	+	+	+			+	+	+	+	+	+
CPT IA	Carnitine palmitoyl transferase type IA deficiency	CPT1A	+				+					+	+	+	+
LCHAD^a	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HADHA	+			+	+	+	+	+	+ (neuropathy)		+		+	+	+
MAD	Multiple acyl-CoA dehydrogenase deficiency (ETF or ETF-QO deficiency)	ETFA, ETFB or ETFDH	+	+		+	+	+	+				+	+	+	+	+
SCHAD	Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HADH	+	+									+						+
CTD^b	Carnitine OCTN2 transporter deficiency	SLC22A5	+	+	+	+	+	+	+ (heart failure)				+	+	+		+	+
CPT II	Carnitine palmitoyl transferase type II deficiency	CPT2	+	+	+	+	+	+	+				+	+	+	+	+
VLCAD	Very long-chain acyl-CoA dehydrogenase deficiency	ACADVL	+	+	+	+	+	+	+				+		+	+	+
MTP^a	Mitochondrial trifunctional protein deficiency	HADHA HADHB	+	+	+	+	+	+	+	+	+ (neuropathy)		+		+	+	+
MCAD^b	Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	+	+	+	+	+		+/− (in adults)				+	+	+	+	+
SCAD^b	Short-chain acyl-CoA dehydrogenase deficiency	ACADS	+	+	+			+ (weakness)			+ (seizures)		+
RR-MAD	Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency	ETFDH		+	+			+									+

↑Indicating abnormally elevated results from these blood tests, ALAT alanine aminotransferase, ASAT aspartate aminotransferase.
^aDuring pregnancy, mothers of foetuses affected with LCHAD or MTP can suffer from Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome or Acute Fatty Liver of Pregnancy (AFLP).
^bAsymptomatic patients have been reported.

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