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单词 BMCC deficiency
释义

BMCC deficiency

英语百科

3-Methylcrotonyl-CoA carboxylase deficiency

(重定向自BMCC deficiency)

3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine. This condition affects an estimated 1 in 50,000 individuals worldwide.

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