Diagnosis
- Tandem mass spectrometry: non-invasive, rapid method; a significant peak at C16 is indicative of generalized CPT II deficiency
- 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 CK 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.
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