Results 71 to 80 of about 5,012,650 (270)
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
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]
, 2015 The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis +6 more
core +1 more source
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. [PDF]
, 2013 International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain ...
Acquaviva, Cécile +13 more
core +6 more sources
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
BMC Medical Genetics, 2020 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 ...
Ru-Yue Chen +9 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Nutrients, 2019 Vitamin B12 deficiency is a common complication in patients after gastrectomy. Elevated methylmalonic acid (MMA) and homocysteine are better indications of vitamin B12 deficiency than vitamin B12 serum level.
Sae-Mi Lee +3 more
semanticscholar +1 more source
American Journal of Clinical Nutrition, 2019 BACKGROUND Serum vitamin B-12 is measured to evaluate vitamin B-12 status. Serum methylmalonic acid (MMA) is a specific functional indicator of vitamin B-12 status; however, concentrations increase with impaired renal function.
E. Mineva +6 more
semanticscholar +1 more source
Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia [PDF]
, 2013 We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in
George Imataka +6 more
core +1 more source
Monitoring Methylmalonic Aciduria by NMR Urinomics
Molecules, 2020 The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to ...
Alina Nicolescu +15 more
doaj +1 more source
Pitfalls in the diagnostic evaluation of subacute combined degeneration [PDF]
, 2015 We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy.
Linnebank, M +3 more
core +1 more source