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- Title
İki taraflı temporal araknoid kistler ve glütarik asidüri tip 1.
- Authors
Yüksel, Deniz; Şahin, Murat; Gürer, Y. K. Yavuz
- Abstract
Glutaric aciduria type 1 is a rare metabolic disease and an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deŞciency of glutaryl-coenzyme A dehydrogenase. The clinical picture typically shows varying degrees of muscular hypotonia, motor delay, dystonia, and dyskinesia beginning acutely or gradually in the Şrst few years of life in often macrocephalic children. Patients with glutaric aciduria type 1 appear to have a bitemporal arachnoid cysts. Here we present glutaric aciduria type 1 in a 6-month-old boy with bilateral temporal cysts and macrocephaly.
- Subjects
METABOLIC disorders in children; RARE diseases; INFANT boys; TEMPORAL bone; CYSTS (Pathology); DEHYDROGENASES; TUMORS; METABOLIC disorders; AMINO acids; DISEASES
- Publication
Türk Pediatri Arşivi, 2008, Vol 43, Issue 3, p102
- ISSN
1306-0015
- Publication type
Article