Results 1 to 10 of about 14,220 (236)

Monitoring Methylmalonic Aciduria by NMR Urinomics [PDF]

Molecules, 2020
The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to ...
Alina Nicolescu, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, Ana Oglinda, Adela Stamati, Isabela Tarcomnicu, Andreea Tutulan-Cunita, Danae Stambouli, Sergiu Gladun, Ninel Revenco, Natalia Uşurelu, Calin Deleanu   +15 more
doaj   +8 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   +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

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients [PDF]

Scientific Reports
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria.
Mohadeseh Fathi, Sheyda Khalilian, Mohammad Miryounesi, Soudeh Ghafouri-Fard   +3 more
doaj   +5 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   +5 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   +5 more sources

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. [PDF]

Cureus, 2023
Methylmalonyl coenzyme A (CoA) epimerase (MCE) converts D-methylmalonyl-CoA into L-methylmalonyl CoA in the final common degradation pathway of valine, isoleucine, methionine, threonine, odd-chain fatty acids, and cholesterol side chains.
Diogo R, Rua IB, Ferreira S, Nogueira C, Pereira C, Rosmaninho-Salgado J, Diogo L.   +6 more
europepmc   +4 more sources

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran. [PDF]

BMC Pediatr
Methylmalonic acidemia (MMAs) is known as a severe, complex, and lethal disorder of methylmalonate and cobalamin. The patients with MMA may have developmental, neurological, and metabolic disorders such as liver disease.
Beyzaei Z, Moravej H, Imanieh MH, Inaloo S, Geramizadeh B.   +4 more
europepmc   +4 more sources

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report [PDF]

BMC Pediatrics, 2021
Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin.
Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková   +6 more
doaj   +3 more sources

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   +4 more sources