What plasma carnitine level indicates deficiency?

Free carnitine <8 μmol/L is diagnostic of systemic carnitine deficiency; levels <20 μmol/L are below normal. Neonatal screening C0 <5 μmol/L is abnormal.

What cardiac presentation is characteristic?

Dilated cardiomyopathy is the classic cardiac presentation, often presenting in infancy to childhood; cardiac function improves dramatically and may normalize with L-carnitine supplementation.

How is L-carnitine dosed in primary deficiency?

Standard dosing is 100-200 mg/kg/day in divided doses (TID); doses can be adjusted based on plasma carnitine levels (target >20 μmol/L) and cardiac response.

Can primary carnitine deficiency present with sudden death?

Yes, cardiac arrhythmia and sudden death can occur; family members of affected children (especially parents who are heterozygotes) should be screened for reduced carnitine levels.

Why does plasma carnitine stay low despite supplementation?

OCTN2 transporter defect means renal reabsorption is impaired; supplementation must compensate for massive renal carnitine losses in addition to dietary intake.

Primary Carnitine Deficiency Severity Assessment

Assesses primary carnitine deficiency severity using plasma free carnitine, acylcarnitine ratio, cardiac function, hypoglycemia episodes, and L-carnitine supplementation dosing requirements.

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Frequently Asked Questions

What plasma carnitine level indicates deficiency?

What cardiac presentation is characteristic?

How is L-carnitine dosed in primary deficiency?

Can primary carnitine deficiency present with sudden death?

Why does plasma carnitine stay low despite supplementation?