Glutaric aciduria type 1: Report of two cases [Glutarik asidüri tip 1: İki vakanin takdimi]
| dc.contributor.author | Elmas Ş. | |
| dc.contributor.author | Kaya Ü. | |
| dc.contributor.author | Aydin K. | |
| dc.contributor.author | Energin V.M. | |
| dc.date.accessioned | 2020-03-26T17:18:55Z | |
| dc.date.available | 2020-03-26T17:18:55Z | |
| dc.date.issued | 2007 | |
| dc.department | Selçuk Üniversitesi | en_US |
| dc.description.abstract | Glutaric aciduria type 1 is an autosomal recessive metabolic disease that is due to a deficiency of glutaryl-Co-A dehydrogenase in the metabolism of lysine, hydroxylysine and tryptophane. It usually appears as the loss of gained motor skills, a previously well child suffering spastic cerebral palsy, choreoathetosis, dystonia and mental retardation following a febrile illness associated with acute mental deterioration in the first three years of life. Less commonly, it may clinically appear as a progressive course of mental deterioration or isolated macrocephaly. Here, we report a 23-month-old boy who could not speak or walk and an eight-month-old girl with seizures and loss of previously gained motor skills. The two cases, having frontotemporal atrophy and basal ganglia degeneration on cerebral magnetic resonance imagings, and increased glutaryl-carnitine, glutaric and 3-hydroxy glutaric acid levels in tandem-mass spectrometer and urine organic acid quantification by gas chromatography, were diagnosed as glutaric aciduria type 1. We report these two cases to emphasize that it is a rare disease and must be considered in the differential diagnosis of cerebral palsy. | en_US |
| dc.identifier.endpage | 35 | en_US |
| dc.identifier.issn | 0010-0161 | en_US |
| dc.identifier.issue | 1 | en_US |
| dc.identifier.scopusquality | Q4 | en_US |
| dc.identifier.startpage | 31 | en_US |
| dc.identifier.uri | https://hdl.handle.net/20.500.12395/21765 | |
| dc.identifier.volume | 50 | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.language.iso | tr | en_US |
| dc.relation.ispartof | Cocuk Sagligi ve Hastaliklari Dergisi | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.selcuk | 20240510_oaig | en_US |
| dc.subject | Cerebral palsy | en_US |
| dc.subject | Differential diagnosis | en_US |
| dc.subject | Frontotemporal atrophy | en_US |
| dc.subject | Glutaric aciduria type 1 | en_US |
| dc.title | Glutaric aciduria type 1: Report of two cases [Glutarik asidüri tip 1: İki vakanin takdimi] | en_US |
| dc.type | Article | en_US |
