Table 2. Presentation and diagnosis of fatty acid oxidation disorders.

Disorder	Hypoglycemia	Liver dysfunction	Cardiomyopathy	Skeletal myopathy	Rhabdomyolysis	Acylcarnitine elevations	Other complications
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)	X	X	–	–	–	C8, C10, C10:1	–
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)	X	X	X	X	X	C12:1, C14:2, C14:1, C14, C16:1, C16	–
Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency (LCHADD)	X	X	X	X	X	C16:1-OH, C16-OH, C18:1-OH, C18-OH	Peripheral neuropathy, retinopathy
Trifunctional protein deficiency (TFPD)	X	X	X	X	X	C16:1-OH, C16-OH, C18:1-OH, C18-OH	Peripheral neuropathy, retinopathy
Carnitine palmitoyltransferase type 1 deficiency (CPT1D)	X	X	–	–	–	C0, C0/(C16+C18) ratio	Renal tubular acidosis
Carnitine-acylcarnitine translocase deficiency (CACTD)	X	X	X	X	–	C16, C16:1, C18, C18:1	–
Carnitine palmitoyltransferase type 2 deficiency (CPT2D)	X	X	X	X	X	C16, C16:1, C18, C18:1	Renal cysts, facial dysmorphism
Carnitine transporter deficiency (CTD)	X	X	X	X	X	C0	Maternal CTD
Short-chain acyl-CoA dehydrogenase deficiency (SCADD)	–	–	–	–	–	C4	Asymptomatic
Multiple acyl-CoA dehydrogenase deficiency (MADD)	X	X	X	X	–	C4, C5, C6, C8, C10:1, C12, C14, C14:1, C16, C16:1, C18, C18:1, C16-OH, C16:1-OH, C18-OH, C18:1-OH	Congenital malformations, facial dysmorphism, renal cysts, sweaty foot odor
3-hydroxyacyl-CoA dehydrogenase deficiency (HADD)	X	–	–	–	–	C4OH	Hyperinsulinism