Abstract
Objective To investigate the clinical and pathological of carnitine palmitoyl transferase deficiency Ⅱ .Methods We reviewed related literature and analyzed the clinical manifestation,pathological changes of this disease, and sent to tandem mass spectrometry(MS-MS)analysis of detection,Results The important organs such as heart, liver, spleen and kidney all have steatosis, except muscle. Tandem mass spectrometry (MS-MS) analysis wasconsistent with its changes.Conclusion Neonatal carnitine palmitoyl transferase deficiency Ⅱ has critical condition and also a systemic disease. Diagnosis of the disease need to combine with clinical, pathological and laboratory examination, etc. Key words: Carnitine Palmitoyl Transferase Deficiency Ⅱ; Lipid Storage Myopathy; Autopsy; Tandern mass spectrometry ( MS-MS ) analysis
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