ALLMedicine™ Methylmalonic Acidemia Center

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cblC deficiency, and to discuss the optimal strategies for assessing and treating such patients, the clinical and laboratory studies were performed in 70 patients....

Jul 18th, 2020 - Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs to be established. We explored the potential con...

Jun 20th, 2020 - Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mortality rate. The aim of our study was ...

Apr 22nd, 2020 - Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) - an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss o...

Apr 15th, 2020 - Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this st...

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cblC deficiency, and to discuss the optimal strategies for assessing and treating such patients, the clinical and laboratory studies were performed in 70 patients....

Jul 18th, 2020 - Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs to be established. We explored the potential con...

Jun 20th, 2020 - Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mortality rate. The aim of our study was ...

Apr 22nd, 2020 - Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) - an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss o...

Apr 15th, 2020 - Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this st...