Hereditary orotic aciduria, type I

Hereditary orotic aciduria, type I is an extremely rare autosomal recessive inborn error of pyrimidine metabolism caused by pathogenic variants in the UMPS gene This genetic defect results in a combined deficiency of both functional enzymatic domains of uridine monophosphate synthase: orotate phosphoribosyltransferase and orotidine-5'-monophosphate decarboxylase Typically presenting in infancy, defining clinical manifestations include severe refractory megaloblastic anemia unresponsive to vitami...

Hereditary orotic aciduria, type I is an extremely rare autosomal recessive inborn error of pyrimidine metabolism caused by pathogenic variants in the UMPS gene This genetic defect results in a combined deficiency of both functional enzymatic domains of uridine monophosphate synthase: orotate phosphoribosyltransferase and orotidine-5'-monophosphate decarboxylase

Pathophysiologically, the inability to synthesize uridine monophosphate impairs normal DNA and RNA synthesis and triggers massive urinary excretion of orotic acid

Pathophysiologically, the inability to synthesize uridine monophosphate impairs normal DNA and RNA synthesis and triggers massive urinary excretion of orotic acid Typically presenting in infancy, defining clinical manifestations include severe refractory megaloblastic anemia unresponsive to vitamin B12 and folate, failure to thrive, developmental delays, and orotic acid crystalluria, which may lead to urinary tract obstruction

Typically presenting in infancy, defining clinical manifestations include severe refractory megaloblastic anemia unresponsive to vitamin B12 and folate, failure to thrive, developmental delays, and orotic acid crystalluria, which may lead to urinary tract obstruction