Kaya Ozcora Gül Demet, Gokay Songul, Canpolat Mehmet, Kardaş Fatih, Kendirci Mustafa, Kumandaş Sefer
Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Kayseri, Turkey.
Division of Pediatric Nutrition and Metabolism, Erciyes University, Kayseri, Turkey.
JIMD Rep. 2018;38:7-12. doi: 10.1007/8904_2017_26. Epub 2017 Apr 15.
Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms.
A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI. Clinical manifestation, MRI findings, and metabolic investigations directed thoughts towards GA-I. Molecular genetic testing revealed a homozygous c.572T>C (p.M191T) mutation in GCDH gene which confirmed the diagnosis. Application of protein restricted diet, carnitine and riboflavin supplementations prevented the progression of Magnetic Resonance Imaging (MRI) and clinical pathologic findings during the 1 year of follow-up period.
This case is of great importance since it shows possibility of infantile stroke in GA-1, significance of early diagnosis and phenotypic variability of disease.
1型戊二酸血症（GA-1）是一种常染色体隐性遗传代谢紊乱疾病，与GCDH基因突变相关，该突变会改变戊二酰辅酶A脱氢酶，这种酶在赖氨酸、羟赖氨酸和色氨酸的分解代谢途径中发挥作用。临床症状通常为脑病危象、肌张力障碍和锥体外系症状。
一名9个月大的男婴因轮状病毒感染期间出现局灶性强直阵挛发作以及磁共振成像（MRI）显示急性梗死灶而转诊至我科。临床表现、MRI检查结果和代谢检查结果提示为1型戊二酸血症。分子遗传学检测显示GCDH基因存在纯合的c.572T>C（p.M191T）突变，从而确诊。在1年的随访期内，采用蛋白质限制饮食、补充肉碱和核黄素可防止磁共振成像（MRI）结果和临床病理表现的进展。
该病例非常重要，因为它显示了1型戊二酸血症患儿发生中风的可能性、早期诊断的重要性以及疾病的表型变异性。
