Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

• Main Authors: Yiming Lin (Author), Chunmei Lin (Author), Weihua Lin (Author), Zhenzhu Zheng (Author), Mingya Han (Author), Qingliu Fu (Author)
• Format: Book
• Published: BMC, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, aden...