A Case Report and Literature Review of the Presence of"Encephalitis" in the Treatment of Patients with Acidemia Associated with Carnitine
Author(s): LIANG Zhi-gang, YANG Shao-wan, LI Min, DOU Lian-wei, CHU Wen-zheng, YU Guo-ping
Pages: 279-284
Year: 2017 Issue: 3
Journal: Chinese Journal of Clinical Neurosciences
Keyword: methyl malonic acid; vitamin B12; high homocysteine levels;
Abstract: Aim To investigate the clinical features of a patient with methionine hyperlipidemia and carnitine hyperalgesia, which is manifested as"encephalitis".Methods The data of clinical manifestation, diagnosis and treatment of a patient with methionine hyperlipidemia and carnitine hyperalgesia were collected, which was manifested as"encephalitis", and the relevant literature was reviewed.Results The patient's brain enhancement MRI showed bilateral frontal temporal occipital white matter found in the spotted slightly longer T1 slightly longer T2 signal. Laboratory examination showed abnormal blood routine, increased plasma homocysteine. Urine organic acid analysis showed that urine MMA was signiifcantly increased, serum propionyl carnitine increased. The patient was diagnosed with methylmalonic acid with carnitine hyperlipidemia, which belonged to mitochondrial genetic metabolic disease.Conclusion For middle-aged patients with repeated"encephalopathy" as main performance, it should be considered of diagnosing genetic metabolic diseases, and the organic acid, mitochondrial metabolism and related gene detection should be taken.
Pages: 279-284
Year: 2017 Issue: 3
Journal: Chinese Journal of Clinical Neurosciences
Keyword: methyl malonic acid; vitamin B12; high homocysteine levels;
Abstract: Aim To investigate the clinical features of a patient with methionine hyperlipidemia and carnitine hyperalgesia, which is manifested as"encephalitis".Methods The data of clinical manifestation, diagnosis and treatment of a patient with methionine hyperlipidemia and carnitine hyperalgesia were collected, which was manifested as"encephalitis", and the relevant literature was reviewed.Results The patient's brain enhancement MRI showed bilateral frontal temporal occipital white matter found in the spotted slightly longer T1 slightly longer T2 signal. Laboratory examination showed abnormal blood routine, increased plasma homocysteine. Urine organic acid analysis showed that urine MMA was signiifcantly increased, serum propionyl carnitine increased. The patient was diagnosed with methylmalonic acid with carnitine hyperlipidemia, which belonged to mitochondrial genetic metabolic disease.Conclusion For middle-aged patients with repeated"encephalopathy" as main performance, it should be considered of diagnosing genetic metabolic diseases, and the organic acid, mitochondrial metabolism and related gene detection should be taken.
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