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 کاملCalculating The Prevalence of Urea Cycle Disorders In The Eu5 Using An Incidence-Survival Model.
Background • Therapies for rare diseases have ignited industry-wide debates concerning patient access, pricing and efficacy. Urea cycle disorders (UCD), a genetic rare disease, is a target for enzyme replacement therapies, yet UCD epidemiology data are scarce. For payers and pharmaceutical companies to accurately forecast patient cost of care, accurate patient population estimates are a necessi...
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 کاملCurrent strategies for the management of neonatal urea cycle disorders.
The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The complexity derives from the number of issues that must be addressed simultaneously. At the Urea Cycle Disorders Consensus Meeting held in Washington, D.C., a panel of physicians and other professionals with extensive experience in this field was assembled to bring some sys...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2013
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2013.07.008