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Clinical characteristics and gene mutation analysis of methylmalonic aciduria

✍ Scribed by Qin Yi; Juanjuan Lv; Fengyan Tian; Hong Wei; Qin Ning; Xiaoping Luo

Book ID
107408195
Publisher
Springer-Verlag
Year
2011
Tongue
Chinese
Weight
494 KB
Volume
31
Category
Article
ISSN
0510-9752

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## Communicated by Johannes Zschocke Methylmalonic aciduria (MMA-uria) is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine, and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hypera