A longitudinal study of urea cycle disorders
نویسندگان
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...
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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 ...
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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 کاملPsychiatric adult-onset of urea cycle disorders: A case-series
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teen...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2014
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2014.08.001