A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth-Like Polyneuropathy
A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth-Like Polyneuropathy
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DOI：
10.1001/archneurol.2011.1526
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发表时间：
2012-07-01
影响因子：
--
通讯作者：
Sedel, Frederic
中科院分区：
文献类型：
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作者：
Meneret, Aurelie;Wiame, Elsa;Sedel, Frederic
背景资料：丝氨酸合成缺陷，其特征是发育迟缓和癫痫发作，已被描述在child.Objective：描述的情况下，丝氨酸合成缺陷由于3-磷酸甘油酸脱氢酶缺乏症的成人突出慢性多发性神经病。设计：病例报告。设置：神经转诊中心。病人：一名31岁男性，患有先天性白内障、轻度精神发育迟滞、轻度小脑共济失调和慢性轴索感觉运动性多发性神经病。电生理，代谢，和遗传检测和治疗口服L-serine.Main结果措施：血浆和脑脊液和临床examination.Results丝氨酸值：氨基酸分析显示血浆和脑脊液中的丝氨酸水平低，遗传分析显示2杂合突变PGDH基因。高剂量丝氨酸治疗导致血浆丝氨酸值和主观功能improvementation.Conclusions的正常化：这种情况下，扩大了3-磷酸甘油酸脱氢酶缺乏症的表型谱。应将血浆氨基酸色谱法添加到Charcot-Marie-Tooth样多发性神经病患者的检查列表中，特别是如果其与精神发育迟缓和先天性白内障相关。
Background: Serine synthesis defects, characterized by developmental delay and seizures, have been described in children.Objective: To describe a case of serine synthesis defect due to 3-phosphoglycerate dehydrogenase deficiency in an adult with prominent chronic polyneuropathy.Design: Case report.Setting: Neurologic referral center.Patient: A 31-year-old man with congenital cataracts, mild psychomotor retardation, slight cerebellar ataxia, and chronic axonal sensorimotor polyneuropathy.Interventions: Electrophysiologic, metabolic, and genetic testing and treatment with oral L-serine.Main Outcome Measures: Serine values in plasma and cerebrospinal fluid and clinical examination.Results: Amino acid analysis showed low serine levels in plasma and cerebrospinal fluid, and genetic analysis revealed 2 heterozygous mutations in the PGDH gene. Treatment with high-dose serine resulted in normalization of plasma serine values and subjective functional improvement.Conclusions: This case expands the phenotypic spectrum of 3-phosphoglycerate dehydrogenase deficiency. Plasma amino acid chromatography should be added to the list of investigations performed in patients with Charcot-Marie-Tooth-like polyneuropathy, especially if it is associated with psychomotor delay and congenital cataracts.