Results 21 to 30 of about 12,046 (150)

Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria. [PDF]

Sci Rep
Kidney damage in individuals with methylmalonyl-CoA mutase deficiency (mut0) results from metabolic and oxidative stress, and disrupted mitochondrial homeostasis.
Köpfer F, Bartosova Medvid M, Fleming T, Pfeffer T, Okun JG, Kölker S, Hoffmann GF, Schmitt CP, Morath M, Peters V.   +9 more
europepmc   +4 more sources

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target. [PDF]

J Inherit Metab Dis
Propionic aciduria (PA‐uria) and methylmalonic aciduria (MMA‐uria) are caused by defects in propionate catabolism. While chronic kidney disease (CKD) is a well‐established complication in MMA‐uria, renal involvement in PA‐uria has only come into focus ...
Zeyer KA, Tholen S, Schilling O, Gerling L, Morath M, Kölker S, Nyström A, Spiekerkoetter U, Schumann A.   +8 more
europepmc   +3 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   +2 more sources

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency

The Turkish Journal of Pediatrics, 2022
Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation ...
Havva Yazıcı, Ebru Canda, Hüseyin Onay, Sema Kalkan Uçar, Sara Habif, Mahmut Çoker   +5 more
doaj   +2 more sources

Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Вопросы современной педиатрии
Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders.
Olga V. Bugun, Galina P. Bogonosova, Tatyana A. Astakhova, Tatyana A. Bairova, Natalya N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Yuliya S. Livadarova, Nanalya I. Sysoeva   +8 more
doaj   +2 more sources

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families. [PDF]

Iran Biomed J, 2023
Background: Methylmalonic aciduria is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes.
Jafari M, Karami F, Setoodeh A, Rahmanifar A, Bagherian H, Alaei MR, Rohani F, Zeinali S.   +7 more
europepmc   +2 more sources

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series. [PDF]

Front Neurol, 2023
Background Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits ...
Almudhry M, Saini AG, Al-Omari MA, Sharma Y, Nouri MN, Rupar CA, Prasad C, Yu AC, Attri SV, Prasad AN.   +9 more
europepmc   +2 more sources

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria [PDF]

BMC Medical Genetics, 2018
Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal ...
Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong   +3 more
doaj   +2 more sources

Understanding the off-loading mechanism of adenosylcobalamin by Cupriviadus metallidurans adenosyltransferase from C. metallidurans Isobutyryl-CoA Mutase Fused [PDF]

Structural Dynamics
Enzymes are Nature's highly efficient catalysts, driving the metabolism of diverse substrates essential for sustaining life across all biological kingdoms.
Jayoh Amurao Hernandez
doaj   +2 more sources

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria. [PDF]

PLoS One, 2022
Background Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its prevention.
Liu Y, Chen Z, Kang L, He R, Song J, Liu Y, Shi C, Chen J, Dong H, Zhang Y, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Li M, Jin Y, Qin J, Yang Y.   +19 more
europepmc   +2 more sources