Carnitine is required for the transport of long chain fatty acids into mitochondria where they are oxidised for energy…carnitine is obtained from foods, particularly animal based foods and via endogenous synthesis…
Carnitine deficiency results from inadquate intake or inability to metabolise carnitine…muscle metabolism is impaired causing myopathy, hypoglycemia or cardiomyopathy. Infants typically present with hypoglycemia, hypoketotic encephalopathy…
Diagnosis of the carnitine transporter defect is aided by the fact that patients will have extremely reduced carnitine levels in plasma and nuclei
Treatment consists of dietary L Carnitine…
Acute illness due to primary carnitine deficiency can be triggered by periods of fasting or viral infections, particularly when eating is reduced