3-甲基戊烯二酸尿症Ⅰ型的AUH基因突变1例报告  

3-methylglutaconic aciduria type Ⅰ due to AUH defect:A case report

作　　者：周伟 李惠中 邵芳[1] 顾茂胜 ZHOU Wei;LI Huizhong;SHAO Fang;GU Maosheng(Department of Medical Genetics and Prenatal Diagnostics,Xuzhou Maternity and Child Health Care Hospital,Xuzhou,Jiangsu 221009,China)

机构地区：[1]徐州市妇幼保健院医学遗传与产前诊断科,江苏徐州221009

出　　处：《中国优生与遗传杂志》2024年第7期1427-1430,共4页Chinese Journal of Birth Health & Heredity

基　　金：彭城英才——医学青年后备人才培养项目(XWRCHT2-0220003)。

摘　　要：目的 探讨AUH基因变异所致3-甲基戊烯二酸尿症Ⅰ型的临床特征及遗传学特点。方法 回顾性总结1例2019年2月徐州市新生儿疾病筛查中心实验室筛查出的3-甲基戊烯二酸尿症Ⅰ型患儿的临床和分子生物学特征。结果本例患儿女,足月剖腹产出生。新生儿筛查提示C4DC+C5-OH异常升高,复查后提示疑似3-甲基戊烯二酸尿症Ⅰ型;检测到AUH基因c.895-3C>G(/)和c.667C>T(p.R223*)双位点复合杂合变异,ACAT1基因c.42C>T(p.S14S)杂合突变,父母均为杂合携带者,诊断为3-甲基戊烯二酸尿症Ⅰ型,目前随访至4岁2月龄。结论 3-甲基戊烯二酸尿症Ⅰ型患儿临床表现具有显著的异质性、病情轻重不一,基因突变类型以剪接突变最为常见,长期的限制亮氨酸饮食配合口服左卡尼汀治疗对部分患儿有效。就该疾病而言,新生儿遗传代谢病筛查有助于早治疗早诊断,提高患儿预后。Objective To investigate the clinical and genetic characteristics of 3-methylpentenediaciduria type Ⅰ caused by AUH gene variation.Methods The clinical and molecular biological characteristics of a child with 3-methylpent-endiaciduria type Ⅰ screened by Xuzhou Neonatal Disease Screening Center in February 2019.Results The girl was born by Cesarean section at full term.Neonatal screening results showed an abnormal increasing of C4DC+C5-OH,and reexamination indicated suspected 3-methylglutaconic aciduria type Ⅰ.The AUH gene c.895-3C>G(/)and c.667C>T(p.R223*)dual-site com-plex heterozygous variants,and ACAT1 gene c.42C>T(p.S14S)heterozygous mutations were detected.Both parents were het-erozygous carriers with 3-methylglutaconic aciduria type Ⅰ.She was followed up to 4 years and 2 months of age.Conclusion The clinical manifestations of children with 3-methylglutaconic aciduria type Ⅰ are significantly heterogeneous,and the sever-ity of the disease varies.Splicing mutation is the most common type of gene mutation.Long-term leucine-restricted diet com-bined with oral L-carnitine treatment is effective for some children.As far as this disease is concerned,neonatal genetic metabolic disease screening can help early treatment and early diagnosis and improve the prognosis of the patients.

关 键 词：3-甲基戊烯二酸尿症Ⅰ型 AUH基因 亮氨酸代谢 新生儿筛查 

分 类 号：R722.1[医药卫生—儿科]