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

• প্রধান লেখক: Ru-Yue Chen (লেখক), Xiao-Zhong Li (লেখক), Qiang Lin (লেখক), Yun Zhu (লেখক), Yun-Yan Shen (লেখক), Qin-Ying Xu (লেখক), Xue-Ming Zhu (লেখক), Lin-Qi Chen (লেখক), Hai-Ying Wu (লেখক), Xu-Qin Chen (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2020-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...