A case of late-onset glutaric acidemia type 1 presenting with hydrocephalus onset

VernacularTitle:以脑积水起病的晚发型戊二酸血症1型1例
Author: Jianhua CHEN ¹ ; Xiangbo WANG
Author Information

1. 北京丰台右安门医院神经内科(北京 100069)
Publication Type:Journal Article
Keywords: Glutaric acidemia type 1; Late-onset in adults; Hydrocephalus; Cerebellar hemisphere lesions; Temporal pole arachnoid cyst
From: Chinese Journal of Nervous and Mental Diseases 2025;51(8):486-489
CountryChina
Language:Chinese
Abstract: A case of late-onset glutaric acidemia type 1(GA1)with hydrocephalus onset is reported.A 21-year-old female presented with acute hydrocephalus as the main clinical manifestation.Cranial MRI showed extensive abnormalities,including abnormal signals in cerebral white matter,bilateral basal ganglia and cerebellar hemisphere vermis,bilateral ventriculomegaly,and bilateral temporal pole arachnoid cysts.Blood and urine organic acid analysis detected elevated levels of glutaric acid and 3-hydroxyglutaric acid,while GCDH gene detection confirmed compound heterozygous mutations(S119L and R355H).The diagnosis of Glutaric acidemia type 1 was established and the symptoms improved following relevant treatment.In clinical practice,patients presenting with unexplained hydrocephalu and head MRI showing typical symmetrical lesions,including cerebellar damage should prompt further investigation with blood and urine organic acid screening to exclude metabolic diseases.