Results 11 to 20 of about 12,046 (150)

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study [PDF]

Orphanet Journal of Rare Diseases
We read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and
Hiba Abid, Areeba Abid, Sarah Sohail, Sara Jawaid   +3 more
doaj   +5 more sources

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients [PDF]

J Inherit Metab Dis
Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or ...
Heinken A, Awada H, Zanotelli V, Froese D, Guéant‐Rodriguez R, Guéant J.   +5 more
europepmc   +4 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   +3 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   +4 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   +4 more sources

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report [PDF]

BMC Pediatrics, 2020
Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj   +3 more sources

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria. [PDF]

Sci Rep, 2023
Methylmalonic aciduria (MMA-uria) is caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). MUT deficiency hampers energy generation from specific amino acids, odd-chain fatty acids and cholesterol.
Schumann A, Brutsche M, Havermans M, Grünert SC, Kölker S, Groß O, Hannibal L, Spiekerkoetter U.   +7 more
europepmc   +4 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   +4 more sources

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. [PDF]

Int J Environ Res Public Health, 2020
Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA ...
Rossi C, Cicalini I, Rizzo C, Zucchelli M, Consalvo A, Valentinuzzi S, Semeraro D, Gasparroni G, Brindisino P, Gazzolo D, Dionisi-Vici C, De Laurenzi V, Pieragostino D.   +12 more
europepmc   +4 more sources

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA). [PDF]

JIMD Rep
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Gragnaniello V, Galderisi A, Tucci S, Doimo M, Caterino M, Loro C, Cazzorla C, Ruoppolo M, Salviati L, Burlina AB.   +9 more
europepmc   +3 more sources