高脯氨酸血症1例报告

A case report of hyperprolinemia

目的探讨高脯氨酸血症的临床及基因突变特点。方法回顾分析1例I型高脯氨酸血症患儿的临床资料,并复习相关文献。结果患儿,男,7岁半,因行走不稳伴反复抽搐、行为异常就诊。血氨基酸及酯酰肉碱谱检测提示脯氨酸升高(2951.52μmol/L),尿有机酸分析提示3-羟基丙酸、3-甲基巴豆酰甘氨酸、巴豆酰甘氨酸浓度增高。基因测序示PRODH存在c.1073C>T、c.857C>T两处杂合突变,经基因功能预测具有致病性,患儿确诊为高脯氨酸血症I型。结论对于不明原因发育落后伴癫痫发作、精神行为异常,且血脯氨酸水平升高者应高度怀疑高脯氨酸血症,尽早行基因检测确诊。

Objective To explore clinical and genetic features for a rare genetic disease of hyperprolinemia.Methods The clinical data of a patient with type I hyperprolinemia admitted were retrospectively analyzed,and related literatures were reviewed.Results A 7 years and 6 months old boy came to our clinic due to unstable walking with repeated convulsions and abnormal behavior.Blood amino acid and ester acyl carnitine spectrum suggested increased proline level(2951.52μmol/L),urine organic acid analysis suggested increased 3-hydroxypropionic acid,3-methyl,crotonyl glycine and crotonyl glycine.Gene sequencing showed two heterozygous mutations in c.1073C>T and c.857C>T in PRODH,which were pathogenic by gene function prediction.Conclusion For children with unexplained developmental delay seizures and abnormal mental behavior,blood amino acid and urinary organic acid analysis should be performed as early as possible.When blood proline levels are elevated,hyperprolinemia should be highly suspected.Genetic testing should be performed as soon as possible.