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单词 Hereditary orotic aciduria
释义

Hereditary orotic aciduria

英语百科

Orotic aciduria

Orotic aciduria has an autosomal recessive mode of inheritance.

Orotic aciduria refers to an excessive excretion of orotic acid in urine. It causes a characteristic form of anemia and may be associated with mental and physical retardation.

Orotic acid is an intermediate product in pyrimidine synthesis pathway, a subsequent product of which plays a role in conversion between dihydrofolate and tetrahydrofolate. Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.

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更新时间:2025/6/19 9:21:05