nutritional disorders
Carnitine Deficiency
Diagnosis of Carnitine Deficiency
In neonates: Mass spectrometry In adults: Acylcarnitine levels In neonates, carnitine palmitoyltransferase deficiency is diagnosed using mass spectrometry to screen blood. Prenatal diagnosis may be possible using amniotic villous cells. In adults, the definitive diagnosis is based on acylcarnitine levels in serum, urine, and tissues (muscle and liver for systemic deficiency; muscle only for myopathic deficiency). 