Urea Cycle Disorders
Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting
... the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other ...Late-onset urea cycle disorders may be ...
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Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives
... Abstract: Urea-cycle disorders are a group of rare hereditary metabolic diseases characterized by deficiencies of one of the enzymes and transporters involved in the urea cycle, which ...
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Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland
... for urea cycle disorders? In Europe, UCDs are rarely – however, ASS-D and ASL- D occasionally – included into national NBS pro- grammes [25], but are commonly included in the US ...
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Suggested guidelines for the diagnosis and management of urea cycle disorders
... Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one ...
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Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
... The urea cycle is the single metabolic pathway that elim- inates circulating ammonia, which is the nitrogen waste product from protein catabolism and a potent neuro- ...to urea, which is non-toxic ...
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
... The urea cycle is the final common pathway for the excre- tion of waste nitrogen as well as arginine synthesis ...[1,2]. Urea cycle disorders (UCDs) are caused by a deficiency of one of ...
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High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
... 3. Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut- Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Bari ć I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, ...
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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
... Urea cycle disorder commoner than OTC deficiency has also been noted in Saudi Arabian population, where ASL deficiency has been described as the most common ...recessive disorders, at least in India ...
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Carrier Detection of Urea Cycle Disorders
... hour protein loading test revealed only a moderate elevation of blood ammonia and a normal orotic acid excretion. Although there have been several symposia on[r] ...
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Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
... To characterise the clinical course of neonatal onset UCDs, we performed a multicentre, retrospective, non- interventional study collecting data on patients affected by symptomatic hyper[r] ...
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Newborn Screening for Urea Cycle Disorders
... If we choose to use a urine specimen collected on filter paper as the means of screening for disorders in the urea cycle, there are a number of approaches available including: paper or t[r] ...
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A Neonatal Screening Test for Argininosuccinic Acid Lyase Deficiency and Other Urea Cycle Disorders
... Sample assay plate with argininosuccinic acid (ASA) present in medium: top, normal blood specimens with dense 10- to 12-mm diameter inner growth zones which result from arginine produced[r] ...
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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
... The onset and severity of UCDs are highly variable and depend both on the specific mutation involved and its im- pact on the corresponding enzymatic or transport function. The onset of severe forms usually occurs during ...
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Vaccines Are Not Associated With Metabolic Events in Children With Urea Cycle Disorders
... We have presented evidence that child- hood immunizations do not seem to trigger HAEs in children with UCDs. Be- cause it is typically not possible to know that a child is developing hyper- ammonemia in the newborn ...
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Biochemical Aspects of Urea Cycle Disorders
... a surgical biopsy of liver is obtained from a female patient with OTC deficiency and if the activity is assayed in 5-mg pieces from different areas of the liver, there is a wide variatio[r] ...
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Urea Cycle Defects: A Challenge for Neonatologists in Limited Resource Settings
... Among urea cycle disorders OTC deficiency is the most prevalent. (2,17) Due to its X-linked nature, parental consanguinity is uncommon and males are more frequently affected.The laboratory evaluation ...
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency
... of Urea Cycle Disorders performed by the UCDC to assess the impact of chronic hepatocellular injury in a large population of individuals with various UCDs, including ...
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Summarizing Remarks
... Ornithine transcarbamylase (OTC) deficiency and argininosuccinate lyase deficiency are the two most common of the five urea cycle disorders.. En- zyme studies have revealed several varia[r] ...
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Isolated Hepatocyte Transplantation in an Infant With a Severe Urea Cycle Disorder
... Initially, protein restriction was absolute with IV glucose in- fused at a rate of 8 to 10 mg/kg/min. Adequate glucose input can be expected to prevent catabolism for a few days, but then low plasma levels of ...
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Glutamine synthetase expression in liver, muscle, stomach and intestine of Bostrichthys sinensis in response to exposure to a high exogenous ammonia concentration
... the urea cycle-related glutamine- dependent CPSase III (Casey and Anderson, 1982); ammonia, therefore, enters the urea cycle pathway as glutamine via carbamoyl phosphate formation (Anderson ...
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