Diagnosis of Urea Cycle Disorders
نویسندگان
چکیده
منابع مشابه
Molecular diagnosis of urea cycle disorders: current global scenario.
Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in different population. This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, nam...
متن کاملUrea 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 کاملSuggested 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 activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading ...
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ژورنال
عنوان ژورنال: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
سال: 1977
ISSN: 0004-5632,1758-1001
DOI: 10.1177/000456327701400128