A Rapid, Simple, Trace, Cost-Effective, and High-Throughput Stable Isotope-Dilution Liquid Chromatography-Tandem Mass Spectrometry Method for Serum Methylmalonic Acid Quantification and Its Clinical Applications. [PDF]
Diagnostics (Basel), 2022 Jin L +8 more
europepmc +3 more sources
Infant Serum and Maternal Milk Vitamin B-12 Are Positively Correlated in Kenyan Infant-Mother Dyads at 1-6 Months Postpartum, Irrespective of Infant Feeding Practice. [PDF]
, 2018 BackgroundVitamin B-12 is an essential nutrient required for many functions including DNA synthesis, erythropoiesis, and brain development. If maternal milk vitamin B-12 concentrations are low, infants may face elevated risks of deficiency when ...
Achando, Beryl +9 more
core +3 more sources
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An +23 more
doaj +1 more source
Elevated Levels of Methylmalonate and Homocysteine in Parkinson's Disease, Progressive Supranuclear Palsy and Amyotrophic Lateral Sclerosis [PDF]
, 2010 Background/Aims: Increasing evidence suggests that elevated levels of homocysteine (Hcy) and methylmalonate (MMA) may be involved in the pathogenesis of neurodegenerative diseases. Methods: The urine levels of MMA and serum levels of Hcy as well as folic
Bötzel, Kai +4 more
core +1 more source
Folate catabolites in spot urine as non-invasive biomarkers of folate status during habitual intake and folic acid supplementation. [PDF]
, 2013 Folate status, as reflected by red blood cell (RCF) and plasma folates (PF), is related to health and disease risk. Folate degradation products para-aminobenzoylglutamate (pABG) and para-acetamidobenzoylglutamate (apABG) in 24 hour urine have recently ...
A Lobo +61 more
core +3 more sources
Exclusive neuronal expression of SUCLA2 in the human brain [PDF]
, 2013 SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru +55 more
core +2 more sources
Algorithm for the early diagnosis of vitamin B12 deficiency in elderly people
Nutrición Hospitalaria, 2013 Background: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories.
Gonzalo Palacios +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang +23 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang +13 more
doaj +1 more source
Effect of vitamin B12 derivatives on urinary excretion of methylmalonic acid in liver diseases [PDF]
, 1970 1. Twenty.one patients with liver diseases were studied for their urinary mehylmalonic acid excretion after a valine load by means of an improved thin layer chromatography. 2.
Taketa, Kazuhisa, Ueda, Masatoshi
core +1 more source