Table 2.

Carnitine shuttle and fatty acid oxidation disorders

Disorder (Prevalence)	Acylcarnitine Profile	Cardiac and Muscle Disease
Carnitine shuttle defects
Primary systemic carnitine deficiency; carnitine transporter defect (1:200,000)	↓ C0, C2	HCM, DCM, CHF, arrhythmias, sudden death hypotonia, muscle weakness
Carnitine palmitoyl transferase deficiency type 2 (1:50–100,000)	↑ C16, C18, C18:1	Cardiomyopathy (infantile form), CHF, muscle weakness, rhabdomyolysis, exercise intolerance
Carnitine acylcarnitine translocase deficiency	↑ C16, C18, C18:1	Cardiomyopathy, CHF arrhythmias, muscle damage
Fatty acid oxidation pathway defects
VLCAD deficiency (1:40–80,000)	↑ C14:1, C14:2, C14, C12:1	HCM, DCM, CHF arrhythmias, sudden death, muscle weakness, exercise intolerance, rhabdomyolysis
LCAD deficiency (1:80,000)	↑ OH-C16, OH-C18:1, OH-C18:2	CM, CHF myopathy, muscle weakness, retinitis pigmentosa, exercise intolerance, rhabdomyolysis
TFP deficiency (1:200,000)	↑ OH-C16, OH-C18:1, OH-C18:2	CM, DCM, CHF, muscle weakness, exercise intolerance, peripheral neuropathy-myopathy, rhabdomyolysis
MAD deficiency (1:200,000)	Complex ↑ in chains of variable lengths	CM, muscle weakness, rhabdomyolysis
MCAD deficiency (1:10–15,000)	↑ C6, C8, C10, C12	Muscle weakness, exercise intolerance, rhabdomyolysis