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Sneha CMI agregó una foto Other
2024-05-08 12:15:52 -

Global Hereditary Orotic Aciduria: An Understanding of its Genetic Basis, Presentation, and Management
Orotic aciduria is a rare autosomal recessive inborn error of pyrimidine metabolism resulting from mutations in the UMPS gene. This gene codes for the enzyme orotate phosphoribosyltransferase (OPRT), which plays a key role in the catabolism of uridine monophosphate (UMP). Deficiency of this enzyme leads to the accumulation and excessive excretion of orotic acid in the urine. If left untreated,...

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Sneha CMI agregó una foto Other
2024-04-23 13:53:34 -

Hereditary Orotic Aciduria: An Overview of a Rare Genetic Disorder
Hereditary orotic aciduria is a rare inherited genetic disorder that affects pyrimidine nucleotide synthesis in the body. It is caused by a mutation in the UMPS gene that encodes for the enzyme orotate phosphoribosyltransferase (OPRT). This enzyme plays a vital role in the pyrimidine salvage pathway involved in the biosynthesis of uridine monophosphate (UMP), which is required for the formation...

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