Results 61 to 70 of about 12,645 (222)
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
BMC Medical Genetics, 2007 Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H +8 more
doaj +1 more source
Vitamin B12 in Cats: Nutrition, Metabolism, and Disease
Animals, 2023 Cobalamin is a water-soluble molecule that has an important role in cellular metabolism, especially in DNA synthesis, methylation, and mitochondrial metabolism. Cobalamin is bound by intrinsic factor (IF) and absorbed in the ileal tract.
Gerardo Siani +3 more
doaj +1 more source
How do we evaluate a marginally low B12 level? [PDF]
, 2007 The best way to evaluate a low-normal B12 level is to check serum methylmalonic acid and homocysteine levels1 (strength of recommendation [SOR]: B, based on consistent level 2 or 3 studies).
Cravens, David D., Nashelsky, Joan
core
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. [PDF]
, 2016 Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria.
Ballhausen, D. +8 more
core +1 more source
An eye on long‐duration spaceflight: Controversies, countermeasures and challenges
Experimental Physiology, EarlyView.Abstract Space flight‐associated neuroocular syndrome (SANS) is a consequence of long‐duration space flight and is detected in two‐thirds of astronauts. In‐flight, this can cause a change in the refraction of the eyes, requiring graded hypermetropic ‘superfocus adjustable’ glasses, optic nerve head oedema and choroidal folds.
Vincent Wing Sum Ng +1 more
wiley +1 more source
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source
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
Pain Practice, Volume 26, Issue 4, April 2026.ABSTRACT Background Pain in Parkinson's disease (PD) manifests clinically in a variety of ways and several pain types have been identified, however, their characteristics have not been extensively studied. Objective To describe the characteristics of common pain types in people with PD.
Anthony Mezzini +4 more
wiley +1 more source
Discordant Vitamin B12 Results in an IgA Nephropathy Patient
Journal of Clinical Laboratory Analysis, Volume 40, Issue 5, March 2026.ABSTRACT Background Discordant Vitamin B12 results can result from immunoassay interferences, potentially leading to unnecessary diagnostic procedures and misdiagnoses if not properly recognized. Case Presentation A 76‐year‐old male with a history of IgA nephropathy, hypertension, and other comorbidities presented with unexpectedly elevated total ...
Oytun Portakal +3 more
wiley +1 more source
BMC PediatricsBackground Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita +9 more
doaj +1 more source