Results 21 to 30 of about 14,220 (236)

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

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report [PDF]

J Korean Med Sci, 2023
Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids.
Lee J, Oh A.
europepmc   +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

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   +5 more sources

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   +2 more sources

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources? [PDF]

Front Pediatr, 2022
Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and
Cui X, Li N, Xue H, Zhang F, Shu J, Liu Y.   +5 more
europepmc   +2 more sources

Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review. [PDF]

J Clin Med
Background: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and ...
Pintus G, Vitturi N, Carraro G, Lenzini L, Gugelmo G, Fasan I, Madinelli A, Burlina A, Avogaro A, Calò LA.   +9 more
europepmc   +2 more sources

SMAD4 Controls Cancer Cell Metabolism by Regulating Methylmalonic Aciduria Cobalamin Deficiency (cbl) B Type. [PDF]

Mol Cells, 2022
Suppressor of mothers against decapentaplegic homolog (SMAD) 4 is a pluripotent signaling mediator that regulates myriad cellular functions, including cell growth, cell division, angiogenesis, apoptosis, cell invasion, and metastasis, through ...
Song K, Lee HS, Jia L, Chelakkot C, Rajasekaran N, Shin YK.   +5 more
europepmc   +2 more sources

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. [PDF]

Hum Genet, 2022
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5’-deoxyadenosylcobalamin (AdoCbl), the ...
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR.   +5 more
europepmc   +2 more sources

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients. [PDF]

Front Pediatr, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Wang P, Shu J, Gu C, Yu X, Zheng J, Zhang C, Cai C.   +6 more
europepmc   +2 more sources