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延胡索酸是人体中间代谢几个途径中的反应物,是细胞内环境中的正常成分。过去的研究证明,细胞外液和尿中延胡索酸的浓度很低。但本文作者采用气相色谱/质谱分析,在两例患有精神发育迟缓和言语显著障碍患者的尿中测得大量的延胡索酸。这是一种迄今未见报导过的新发现。病例1是一位25岁的高加索女性,患有综合性精神发育迟缓,言语技能明显障碍,呕吐和严重头痛已6个月,并有中脑导水管狭窄性积水。患者童年时健康活泼,但言语发育迟缓。患者食欲正常,
Fumarate is a reactant in several pathways of human metabolism and is a normal component of the intracellular environment. Past studies have shown that the concentration of fumaric acid in extracellular fluid and urine is very low. However, the authors used gas chromatography / mass spectrometry to measure large amounts of fumarate in the urine of two patients with mental retardation and speech-impaired speech. This is a new discovery so far not reported. Case 1 was a 25-year-old Caucasian woman with general mental retardation, significant speech impairment, vomiting and severe headache for 6 months and stenosis of midbrain aqueduct. Patients are healthy and lively childhood, but speech is slow. Patients with normal appetite,