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单词 Adenylosuccinate lyase deficiency
释义

Adenylosuccinate lyase deficiency

英语百科

Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency has an autosomal recessive pattern of inheritance.

Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma.

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