Inborn Errors of Metabolism with Seizures Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders

被引：15

作者：

Almannai, Mohammed ^{[1
]}

El-Hattab, Ayman W. ^{[2
]}

机构：

[1] Texas Childrens Hosp, Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA

[2] Tawam Hosp, Pediat Dept, Div Clin Genet & Metab Disorders, Al Ain 15258, U Arab Emirates

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2018年 / 65卷 / 02期

关键词：

Inborn errors of metabolism; Seizures; Epilepsy; Myoclonic epilepsy; Glycine; Serine; Pyridoxine; 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY; ADENYLOSUCCINATE LYASE DEFICIENCY; PYRIDOXINE-DEPENDENT EPILEPSY; REDUCTASE MTHFR DEFICIENCY; SULFITE OXIDASE DEFICIENCY; OF-THE-LITERATURE; NONKETOTIC HYPERGLYCINEMIA; REMETHYLATION DISORDERS; BIOTINIDASE DEFICIENCY; ANTIQUITIN DEFICIENCY;

D O I：

10.1016/j.pcl.2017.11.007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Inborn errors of metabolism (IEMs) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEMs are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEMs can present with seizures, either as the main presenting finding or as a part of a more complex phenotype. These include cofactor-related disorders, glycine and serine metabolism defects, and other disorders.

引用

页码：279 / +

页数：22

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