Seizures, Dystonia, and Spasms in a 14-Year-Old Child

[摘要] A 14-year-old male patient attends a metabolism clinic for routine assessment. He has a complex medical history that includes recovery from a basal ganglia stroke in infancy and several hospital admissions with hypoxic brain injury, dystonias, and spasms. He is currently taking levetiracetam for seizure control. As part of his monitoring, a urine sample is collected for organic acid analysis using GC-MS. The chromatogram is shown in Fig. 1.Fig. 1. Organic acid analysis of patient urine using GC-MS.Urine organic acids were extracted into ethyl acetate/ether and converted to TMS (trimethylsilyl) derivatives prior to analysis using an Agilent GC 6890N/ MS 5975 system equipped with a DB-1 column.This patient has glutaric aciduria type I (GA I)2 caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH) (EC number 1.3.8.6), a key enzyme in the catabolism of lysine, hydroxylysine, and tryptophan …

[学科分类] 过敏症与临床免疫学