Orphanet Journal of Rare Diseases, 2021 Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment.
M. Alfadhel +19 more
semanticscholar +1 more source
Diagnosis of Methyl Malonicaciduria from 2013 to 2018
Revista Finlay, 2020 Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid.
Alina Concepción Álvarez +5 more
doaj +2 more sources
Homocysteine as a potential biochemical marker for depression in elderly stroke survivors
Food & Nutrition Research, 2012 Background: Elderly stroke survivors have been reported to be at risk of malnutrition and depression. Vitamin B-related metabolites such as methylmalonic acid and homocysteine have been implicated in depression.
Michaela C. Pascoe +5 more
doaj +1 more source
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis. [PDF]
, 2019 The risk of adverse effects of nitrous oxide (N2O) exposure is insufficiently recognized despite its widespread use. These effects are mainly reported through case reports. We conducted an individual patient data meta-analysis to assess the prevalence of
Filhine-Tresarrieu, Pierre +10 more
core +3 more sources
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj +1 more source
Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R +7 more
core +1 more source
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
International Journal of Neonatal Screening, 2023 Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas +8 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
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
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