The diagnosis of LSM should be considered when typical pathological lipid droplet vacuolization presents in the muscle fibers. Urine organic acids, dry filter paper blood spot and serum free fatty acid acyl-carnitine analysis can help diagnosis.
其诊断常在骨骼肌病理出现细胞内典型脂滴空泡时考虑,尿有机酸、干燥滤纸血片游离脂肪酸及血清脂酰肉碱分析有助诊断,明确分型需酶活性或基因检测。
参考来源 - 脂质沉积性肌病研究进展·2,447,543篇论文数据，部分数据来源于NoteExpress
MS尿有机酸分析是有机酸尿（血）症筛查与诊断的可靠方法。
GC/MS is a very important method in diagnosis of organic acidemias.
结论GC/ MS尿有机酸分析对本症有确诊意义，早期发现、合理治疗可有效地改善预后。
Conclusion GC/MS is a very important method in diagnosing methylmalonic aciduria. Early diagnosis and adequate treatment contributes a lot to improve the mental prognosis of the patients.
目的：探讨智力低下、癫等神经系统疾病患儿中有机酸尿症的发病情况、临床特点、诊断与治疗方法。
SUMMARY Objective:To investigate the incidences, clinical features, diagnosis and treatment of organic acidurias in children with high risk to mental retardation and other neurological defects.
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