Hereditary Orotic Aciduria Industry: Unraveling the Complexities of Global Inherited Metabolic Disorder Orotic Aciduria
What is Hereditary Orotic Aciduria Industry?
Hereditary orotic aciduria is a rare autosomal recessive inborn error of pyrimidine metabolism. It is caused due to deficiency of the enzyme orotate phosphoribosyltransferase (OPRT), which is responsible for the conversion of orotic acid to orotidine-5'-monophosphate in the pyrimidine biosynthetic pathway. This results in accumulation and excretion of orotic acid in the urine.
Symptoms and Clinical Features
The symptoms usually appear within the first few months of life. Common symptoms include vomiting, diarrhea, failure to thrive, and developmental delay. If left untreated, it may result in liver damage, kidney stones, developmental delays, intellectual disability, recurrent infections, and even death in severe cases. Some patients may also present with hypotonia, seizures, liver dysfunction, and eczematous skin lesions. The clinical features and severity can vary significantly between individuals.
Explore More Related Article On- Ticagrelor Market
#Hereditary Orotic Aciduria, #pyramid , #DNA , #biosynthetic
What is Hereditary Orotic Aciduria Industry?
Hereditary orotic aciduria is a rare autosomal recessive inborn error of pyrimidine metabolism. It is caused due to deficiency of the enzyme orotate phosphoribosyltransferase (OPRT), which is responsible for the conversion of orotic acid to orotidine-5'-monophosphate in the pyrimidine biosynthetic pathway. This results in accumulation and excretion of orotic acid in the urine.
Symptoms and Clinical Features
The symptoms usually appear within the first few months of life. Common symptoms include vomiting, diarrhea, failure to thrive, and developmental delay. If left untreated, it may result in liver damage, kidney stones, developmental delays, intellectual disability, recurrent infections, and even death in severe cases. Some patients may also present with hypotonia, seizures, liver dysfunction, and eczematous skin lesions. The clinical features and severity can vary significantly between individuals.
Explore More Related Article On- Ticagrelor Market
#Hereditary Orotic Aciduria, #pyramid , #DNA , #biosynthetic
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