* Tandem mass spectrometry: non-invasive, rapid method; a significant peak at C16 is indicative of generalized CPT<unk>  deficiency * Genetic testing and carrier testing to confirm deficiency using a skin enzyme test. Pregnant women can also undergo testing via amniocentesis. * Enzymatic activity studies in fibroblasts and/or lymphocytes * Laboratory findings: most patients have low total and free carnitine levels and high acylcarnitine:free carnitine ratios. Adult patients often have serum and/or urine screen positive for the presence of myoglobin and serum creatine kinase and transaminase levels 20-400x higher than normal levels during an attack. Signs of metabolic acidosis and significant hyperammonemia have been reported in infantile and neonatal cases.
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine-acylcarnitine translocase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Acyl-CoA oxidase deficiency
Malonyl-CoA decarboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Pyruvate kinase deficiency