网络尿素循环代谢障碍;尿素循环障碍;尿素循环代谢异常 网络释义
Citrate长久以来已被使用提供当作Krebs-cycle 的中间产物。它已被知道可以降低饭后的血氨而运用在Argininosucinic aciduria的治疗上。饮食和药物之间的平衡是重要的。蛋白质摄取的量会受到食欲和生长速度的影响。有些病人对于蛋白质会产生厌恶感,所以连建议的摄取量都...
高血氨症---尿素循环代谢异常(urea cycle disorders) 高血氨症是由于血氨代谢通路——尿素循环系统中的任意一种酶缺陷所致的遗传性疾病(ICD-10-E)。氨基酸降解产生的大量氨分子不能通过尿素循环系统代谢,而是迅速在脑细胞中与谷氨酸形成谷氨酰胺并...
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients. Ammonia levels ...
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with ...
Urea Cycle Disorders (UCD) The urea cycle is a component of protein metabolism that takes place primarily in a person’s liver. When the body breaks down protein, ammonia is produced, which is toxic. Enzymes in the urea cycle are responsible for the process of converting ammonia into urea,...
RAVICTI is the #1 prescribed ammonia-controlling treatment for urea cycle disorders (UCDs).* RAVICTI is proven to control ammonia for all ages: newborns, babies, children, and adults.†Prescription RAVICTI® (glycerol phenylbutyrate) Oral Liquid along with a low-protein diet, and in some cases...
Urea-cycle disorders (UCDs) are a group of inborn errors of hepatocyte metabolism that are caused by the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea, via the urea cycle (UC). From: Trends in Molecular Medicine, 2002 ...
Feillet F, Leonard JV (1998) Alternative pathway therapy for urea cycle disorders. J Inher Metab Dis 21(Suppl 1):101–111Feillet, F., Leonard, J.V., 1998. Alternative pathway therapy for urea cycle disorders. J. Inherit. Metab Dis. 21 Suppl 1, 101-111....
Inborn errors of urea synthesis lead to an accumulation of ammonia in blood and brain and result in high rates of mortality and neurodevelopmental disability. This study seeks to characterize the cognitive, adaptive, and emotional/behavioral functioning of children with urea cycle disorders (UCDs). ...