Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency

In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients