Floret D, Divry P, Dingeon N, Monnet P
Arch Fr Pediatr. 1979 May;36(5):462-70.
A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of glutaric and glutaconic acids with traces of alpha-hydroxyglutaric acid. The diagnosis of glutaric aciduria was confirmed by the low activity of glutaryl CoA dehydrogenase in liver tissue. This diagnosis should be considered in children with progressive neurological disorders (dystonia, choreoathetosis) and in children with an illness similar to Reye's syndrome.
一名4岁轻度智力发育迟缓女童出现惊厥、昏迷和肝肿大。她很快死亡。主要生化检查结果为低血糖、代谢性酸中毒、全身性氨基酸尿、血浆和尿液α-氨基己二酸升高、大量尿液排出戊二酸和戊烯二酸并伴有微量α-羟基戊二酸。肝组织中戊二酰辅酶A脱氢酶活性降低证实了戊二酸尿症的诊断。对于患有进行性神经疾病（肌张力障碍、舞蹈手足徐动症）的儿童以及患有类似瑞氏综合征疾病的儿童，应考虑这一诊断。
