Glutaric aciduria type 1 disease
| dc.contributor.author | Ghoul, Nassema. Amroune, Hafida. Loukriz, Naouel | |
| dc.date.accessioned | 2024-07-03T12:34:17Z | |
| dc.date.available | 2024-07-03T12:34:17Z | |
| dc.date.issued | 2024 | |
| dc.description.abstract | Glutaric acidemias are a group of illnesses that cause an elevated excretion of glutaric acid in the urine. A glutaryl-CoA dehydrogenase deficit leads to lysine, hydroxylysine, and tryptophan metabolism disorders, including glutaric acidemia type 1 (GA-1). Glutaric acid and 3- hydroxyglutaric acid build up as a result. Patients who are affected may exhibit acute dystonia due to striatal degeneration, brain shrinkage, and macrocephaly. Usually, a pediatric illness that is concurrently causing fever between the ages of 6 and 18 months is the cause of these symptoms. Elevated glutaryl (C5DC) carnitine can be utilized to detect this problem during neonatal screening. Urine's acylcarnitine profile typically peaks at glutaryl carnitine, whereas an excess of 3-OH-glutaric acid is found in the urine's organic acid analysis. The pre-symptomatic start of metabolic treatment, which includes a low-lysine diet, carnitine supplementation, and more intensive emergency care during catabolic episodes, is contingent upon newborn screening. These interventions together have significantly improved neurological outcomes. On the other hand, motor dysfunction already present due to striatal injury can’t be corrected by starting treatment after symptoms appear. Following the onset of striatal damage vulnerability, which occurs at age 6, dietary treatment can be loosened. It is still unknown, though, how dietary relaxation would affect long-term results. | |
| dc.identifier.uri | https://dspace.univ-msila.dz/handle/123456789/43159 | |
| dc.language.iso | fr | |
| dc.subject | glutaric acidemia | |
| dc.subject | macrocephaly | |
| dc.subject | glutaryl-CoA dehydrogenase | |
| dc.subject | dystonia | |
| dc.subject | (C5DC) | |
| dc.subject | Newborn screening | |
| dc.subject | carnitine | |
| dc.subject | striatal damage. | |
| dc.title | Glutaric aciduria type 1 disease | |
| dc.type | Thesis |