Treatment is a lifelong process that doesn't cure the condition, but it can effectively manage the symptoms.
The child's treatment probably will involve:
· Low protein, high-calorie diet
· Medications
· Amino acid supplements
· Liver transplantation
Urea cycle disorders are autosomal recessive disorders with the exception of ornithine transcarbamylase deficiency, which is X-linked. Neonates with absent urea cycle enzyme activity typically present with hyperammonemia coma within the first week after birth. Outcomes can be severe, with high morbidity and mortality approaching 50% (Batshaw and Monahan, 1987).
This disorder is one of the most common inborn errors of metabolism in the liver, with an estimated Incidence ranging from 1:30,000 to 1:46,000 live births. Here are some epidemiological studies.
According to the literature survey, Urea Cycle Disorders can occur irrespective of sex-based differences among children. However, there may be differences in the number based on the type of the UCD.
Recent advances in the treatment of inborn errors of urea synthesis have significantly decreased mortality. The treatment of urea cycle disorders consists of dietary management to limit ammonia production, in conjunction with medications and/or supplements that provide alternative pathways for the removal of ammonia from the bloodstream.
The aim is to correct biochemical abnormalities and ensure adequate nutritional intake. Treatment involves compounds that increase the removal of nitrogen waste. These compounds convert nitrogen into products other than urea, which are then excreted; hence, the load on the urea cycle is reduced.
The first compounds to be used were sodium benzoate and arginine. Later, phenylacetate was used, which has now been replaced by phenylbutyrate.
Original Source:- Urea Cycle Disorders Market Research Report
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