Results 11 to 20 of about 8,189 (189)

Mouse models for methylmalonic aciduria. [PDF]

PLoS ONE, 2012
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters, James J Pitt, Leonie R Wood, Natasha J Hamilton, Joseph P Sarsero, Nicole E Buck   +5 more
doaj   +8 more sources

Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation [PDF]

Clinical Case Reports, 2018
Key Clinical Message Methylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications.
Joana Rosa, Ana Beatriz Fraga, Rita deCarvalho, Ana Lúcia Maia, Ana Luísa Rodrigues, Maria Fernanda Gomes   +5 more
doaj   +5 more sources

Renal Involvement in Methylmalonic Aciduria [PDF]

Kidney International Reports, 2017
Ahmed M. Alkhunaizi, Nouriya Al-Sannaa
doaj   +5 more sources

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports, 2018
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar   +3 more
doaj   +2 more sources

Methylmalonic Aciduria in Children: Clinical Recommendations

Педиатрическая фармакология, 2017
Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem.
Alexander A. Baranov, Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, Elena Yu. Zakharova, Natal’ya G. Zvonkova, Lyudmila M. Kuzenkova, Sergei I. Kutsev, Svetlana V. Mikhailova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexander A. Pushkov, Kirill V. Savostianov, Liliya R. Selimzyanova   +16 more
doaj   +2 more sources

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

Metabolites, 2023
Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways.
Loai A. Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty, Eileen P. Treacy   +4 more
doaj   +2 more sources

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria [PDF]

Medicina, 2021
Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik, Anita MacDonald, Jolanta Sykut-Cegielska   +2 more
doaj   +2 more sources

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 ...
Rosenblatt, David S., Lerner-Ellis, Jordan P, Stucki, Martin, Suormala, T, Baumgartner, Matthias R; https://orcid.org/, Baumgartner, Matthias R., Fowler, Brian, Lerner-Ellis, Jordan P., Newbold, R F, Newbold, Robert F, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, Robert F., Rosenblatt, D S, Coelho, David, Suormala, Terttu, Rosenblatt, David S, Stucki, M, Baumgartner, M R, Fowler B, Newbold RF, Rosenblatt DS, Coelho D, Lerner-Ellis JP, Suormala T, Baumgartner MR, Stucki M   +27 more
core   +8 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, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj   +2 more sources

A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

International Journal of Neonatal Screening, 2017
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily
Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi   +5 more
doaj   +2 more sources