Summary of fatty acid oxidation disorders

	Enzyme	Gene	Prevalence	Symptoms	Other complications	Plasma acylcarnitines
VLCADD	Very long-chain acyl-CoA dehydrogenase deficiency	ACADVL	1 in 42,500 to 120,000	G, L, C, M, R		Elevated C14:1–, C14–, C16:1–, C16–
LCHADD	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HADHA	1 in 110,000	G, L, C, M, R	Retinopathy, peripheral neuropathy	Elevated C16:1–OH–, C16–OH–, C18:1–OH–, C18–OH–
TFPD	Trifunctional protein deficiency	HADHA, HADHB	Rare	G, L, C, M, R	Retinopathy, peripheral neuropathy	Elevated C16:1–OH–, C16–OH–, C18:1–OH–, C18–OH–
CTD	Carnitine transporter deficiency	SLC22A5	1 in 20,000 to 120,000	G, L, C, M, R	NBS maternal CTD	Low total and free carnitine levels
CACTD	Carnitine-acylcarnitine translocase deficiency	SLC25A20	Rare	G, L, C		Elevated C16–, C16:1–, C18, C18:1–
CPT1D	Carnitine palmitoyltransferase 1A deficiency	CPT1A	1 in 500,000	G, L	Renal tubular acidosis, Arctic variant	Elevated total and free plasma carnitine levels
CPT2D	Carnitine palmitoyltransferase 2 deficiency	CPT2	Rare	G, L, C, M, R	Renal cysts, facial dysmorphism	Elevated C16–, C16:1–, C18, C18:1–
MCADD	Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	1 in 20,000 1 in 51,000 to 263,000^[1]	G, L		Elevated C6–, C8–, C10–, C10:1–
MADD	Multiple acyl-CoA dehydrogenase deficiency	ETFA, ETFB, ETFDH	1 in 15,000 to 2,000,000^[2]	G, L, C, M	Renal cysts, congenital malformations, facial dysmorphism, sweaty foot odor	Elevated C4–, C5–, C5DC–, C6–, C8–, C10:1–, C12–, C14–, C14:1–, C16–, C16:1–, C18–, C18:1–, C16–OH–, C16:1–OH–, C18–OH–, C18:1–OH–
SCADD	Short-chain acyl-CoA dehydrogenase deficiency	ACADS	1 in 35,000 to 50,000		Asymptomatic	Elevated C4–
M/SCHAD	Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency	HADH	Rare		Hyperinsulinism	Elevated C4–OH–

ACADVL: acyl-CoA dehydrogenase, very long-chain gene; G: hypoglycemia; L: liver dysfunction; C: cardiomyopathy; M: skeletal myopathy; R: rhabdomyolysis; HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; HADHB: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; SLC22A5: solute carrier family 22 member 5 gene; NBS: newborn screening; SLC25A20: solute carrier family 25 member 20 gene; CPT1A: carnitine palmitoyltransferase 1A; CPT2: carnitine palmitoyltransferase 2; ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain; ETFA: electron transfer flavoprotein, alpha subunit; ETFB: electron transfer flavoprotein, beta subunit; ETFDH: electron transfer flavoprotein dehydrogenase; ACADS: acyl-CoA dehydrogenase, C-2 to C-3 short-chain; HADH: 3-hydroxyacyl-CoA dehydrogenase.

References:

Merritt JW II, Chang IJ. Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, GeneReviews [Internet], University of Washington, Seattle, 2000 (updated 2019).
Linder M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting. J Inherit Metab Dis 2010; 33:521.

Adapted from: Sun A, Merritt JW II. Orphan drugs in development for long-chain fatty acid oxidation disorders: Challenges and progress. Orph Drug Res Rev 2015; 5:33.

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Summary of fatty acid oxidation disorders