In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
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چکیده
منابع مشابه
Urea cycle disorders.
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 above 200 micromol/l are usually caused by inherited metabolic diseases and it is essential to make a diag...
متن کاملThe nutritional management of urea cycle disorders.
Diet is one of the mainstays of the treatment of patients with urea cycle disorders. The protein intake should be adjusted to take account of the inborn error and its severity and the patient's age, growth rate, and individual preferences. Currently, the widely used standards for protein intake are probably more generous than necessary, particularly for those with the more severe variants. Most...
متن کاملLong-term correction of urea cycle disorders.
Long-term correction of urea cycle disorders is achieved by correction of the enzymatic defect in hepatocytes. Currently, orthotopic liver transplantation is the primary means of achieving this correction. In the United States most liver transplantations for urea cycle disorders have been restricted to patients with ornithine transcarbamylase deficiency and argininosuccinic aciduria. However, p...
متن کاملClinical and Biochemical Characterizations of Pediatric Patients with Urea Cycle Disorders in Upper Egypt: A Case- Control Study
Background: The diagnosis of inborn errors of metabolism is generally challenging. We aimed to explore various types of urea cycle disorders (UCDs), and their clinical presentations and biochemical findings among Egyptian pediatric patients. Materials and Methods: This case-control study was conducted on 86 participants categorized into ...
متن کاملThe Urea Cycle
Convention terminology. There follows a compilation of numerical abnormalities of chromosome constitution, again in order 1 to 22, X and Y. There is a table of syndromes associated with breakage syndromes. Associations of chromosome anomalies and cancer cell lines have been excluded. The preface contains seven tables, listing chromosome involved in polymorphisms, breakage, and aneuploidy syndro...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2000
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.140082197