EPIDEMIOLOGY, PATHOPHYSIOLOGY, AND HINDRANCE OF UREA CYCLE ERROR OF METABOLISM
DOI:
https://doi.org/10.22159/ijms.2021.v9i4.42246Keywords:
Inborn errors of metabolism, Urea cycle disorders, Urea cycle disorders classification, Management of urea cycle disordersAbstract
Inborn errors of metabolism (IEMs) are a class of genetic disorders that are rare individually, but collectively they occur in common terms exhibiting an average prevalence of 1 in 1000 individuals. One of the most commonly occurring IEMs is the urea cycle disorders (UCDs), which are a group of unusual disorders that have an effect on the urea cycle, a sequence of metabolic processes through which nitrogen is transformed into urea and expelled from the body by the urine. These diseases are the primary cause of hereditary hyperammonemia, and they can result in developmental disabilities, epilepsy, loss of psychomotor control, and death. UCDs are most commonly diagnosed during infancy, although certain infants do not exhibit symptoms until they are in their early childhood. IEMs are precisely diagnosed and recorded through tandem mass spectroscopy-based newborn screening. Recent advances in IEMs include new therapies based on dietary modification, enzyme replacement therapy, development of novel compounds, and diagnosis involving untargeted metabolomics and whole-exome sequencing are also widely being used in new disease discovery. Modern improvements in diagnosis and care have increased the prognosis significantly for a lot of children with IEM. It has been suggested that expanded access to awareness of IEMs is the most significant change leading to better treatment. The purpose of this review is to provide an overview on IEM and present in-depth knowledge about the UCDs including their subtypes.
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