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

• Main Authors: Ru-Yue Chen (Author), Xiao-Zhong Li (Author), Qiang Lin (Author), Yun Zhu (Author), Yun-Yan Shen (Author), Qin-Ying Xu (Author), Xue-Ming Zhu (Author), Lin-Qi Chen (Author), Hai-Ying Wu (Author), Xu-Qin Chen (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalo...