What C14:1 level indicates VLCAD deficiency on NBS?

Tetradecenoylcarnitine (C14:1) >1.0 μmol/L on NBS is the typical cutoff; some programs also use C14:1/C12:1 or C14:1/C16 ratios for improved specificity.

What are the three VLCAD phenotypes?

Severe cardiac form (infancy, cardiomyopathy, arrhythmia, hypoglycemia); hypoketotic hypoglycemia form (childhood); exercise/stress myopathic form (adolescent-adult, rhabdomyolysis only).

How much MCT oil is recommended in VLCAD?

MCT oil provides C6-C12 chain fatty acids that bypass the C14-C20 block; dosing 1-3 g/kg/day divided in meals; triheptanoin (C7 oil) may be more beneficial as it produces odd-chain ketones for cardiac fuel.

What exercise protocol is safe in VLCAD myopathic form?

Aerobic exercise with adequate carbohydrate before and during activity; maintain glucose intake during exercise >30 min; avoid prolonged fasting before exercise; high-intensity anaerobic exercise should be avoided.

Does VLCAD cardiomyopathy respond to treatment?

Cardiomyopathy in VLCAD responds dramatically to MCT supplementation and fasting avoidance; cardiac function can normalize within weeks; it recurs with dietary non-compliance or prolonged illness.

VLCAD Deficiency Risk Stratification and Monitoring

Stratifies risk in very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency using C14:1 carnitine levels, cardiac involvement, exercise-induced rhabdomyolysis history, and MCT supplementation adequacy.

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Frequently Asked Questions

What C14:1 level indicates VLCAD deficiency on NBS?

What are the three VLCAD phenotypes?

How much MCT oil is recommended in VLCAD?

What exercise protocol is safe in VLCAD myopathic form?

Does VLCAD cardiomyopathy respond to treatment?