Results 1 to 10 of about 12,176 (132)

New insights into the pathophysiology of methylmalonic acidemia. [PDF]

J Inherit Metab Dis, 2023
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology.
Head PE, Meier JL, Venditti CP.
europepmc   +4 more sources

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles. [PDF]

Metabolites
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation.
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C.   +4 more
europepmc   +4 more sources

Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method. [PDF]

World J Pediatr
Methylmalonic acidemia (MMA) is a disorder of autosomal recessive inheritance, with an estimated prevalence of 1:50,000. First-tier clinical diagnostic tests often return many false positives [five false positive (FP): one true positive (TP)].
Zhu ZX, Genchev GZ, Wang YM, Ji W, Ren YY, Tian GL, Sriswasdi S, Lu H.   +7 more
europepmc   +4 more sources

Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical "Neurodegenerative" Variant? [PDF]

Indian J Psychol Med, 2023
The patient showed rapid improvement in her activities of daily living and communication. She regained the ability to feed independently and, following physiotherapy, could walk with aid. She maintained well for two months.
Jayaram R, Suresh A, Rastogi M, Goyal N.
europepmc   +3 more sources

Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report. [PDF]

Clin Case Rep, 2023
Methylmalonic acidemia (MMA) combined with hyperhomocysteinemia is an autosomal recessive genetic disease which can lead to metabolic acidosis, elevated lactate, and high blood ammonia level.
Pang Y, Meng F, Guo Y, Zhou F.
europepmc   +4 more sources

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia. [PDF]

JIMD Rep
ABSTRACT Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from a deficiency of the enzyme methylmalonyl‐CoA mutase (MMUT), defects in the metabolism of its cofactor, adenosylcobalamin, or deficiency of the enzyme methylmalonyl‐CoA epimerase. With improved awareness, earlier diagnosis, and
Woidy M, Tsiakas K, Mahmud M, Eich G, Loos S, Lisfeld J, Schultz S, Tallarek AC, Hecher K, Huber TB, Muntau AC, Gramer G.   +11 more
europepmc   +2 more sources

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]

Ital J Pediatr
Maggio MC, Castana C, Caserta M, Di Fiore A, Siciliano V, Corsello G.   +5 more
europepmc   +5 more sources

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia. [PDF]

Orphanet J Rare Dis
Ling IC, Niu DM, Yang CF, Lee CY, Liang SB, Chen YJ.   +5 more
europepmc   +3 more sources

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype. [PDF]

Heliyon
Zhang X, Xu X, Shu J, Zhi X, Wang H, Dong Y, Sheng W, Li D, Meng Y, Cai C.   +9 more
europepmc   +3 more sources

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source