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单词 Fumarase deficiency
释义

Fumarase deficiency

英语百科

Fumarase deficiency

Fumarase deficiency has an autosomal recessive pattern of inheritance.

Fumarase deficiency (or fumaric aciduria), also known as "Polygamist Down's", is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase, which is indicated by a buildup of fumaric acid in the urine.

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更新时间:2025/6/18 23:24:10