Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon...

Source: BMC Medical Genetics - September 21, 2020 Category: Genetics & Stem Cells Authors: Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu and Xu-Qin Chen Tags: Case report Source Type: research