Results 21 to 30 of about 12,176 (132)

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations. [PDF]

Eur J Med Res
Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children.
Yin Z, Zhang C, Dong R, Zhang X, Song Y, Hao S, Gai Z, Zhou B, Hui L, Wang S, Xue H, Cao Z, Liu Y, Ma X.   +13 more
europepmc   +2 more sources

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. [PDF]

JCI Insight
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP.   +26 more
europepmc   +2 more sources

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient. [PDF]

Front Neurol, 2023
Introduction Cobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Chen Q, Tang J, Zhang H, Qin L.
europepmc   +2 more sources

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN. [PDF]

Kidney Int Rep
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C.   +14 more
europepmc   +2 more sources

Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report. [PDF]

Transl Gastroenterol Hepatol
Background Liver transplantation (LT) is a therapeutic option in multiple inherited metabolic diseases (IMDs), including methylmalonic acidemia (MMA), as LT reduces the risk of acute metabolic decompensations and long-term complications associated with ...
Chorley AJ, Terkivatan T, de Jonge J, Polak WG, Tran KTC, Unkhoff C, den Hoed CM, Wagenmakers MAEM, Ijzermans JNM, Minnee RC, Boehnert MU.   +10 more
europepmc   +2 more sources

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Journal of Inherited Metabolic Disease, 2023
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5′‐deoxy‐adenosylcobalamin.
I. Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass, Jack Gagné, Camryn Hall, S. Ferry, C. Van Ryzin, J. Sloan, Elisa Sacchetti, G. Catesini, C. Rizzo, D. Martinelli, M. Spada, C. Dionisi-Vici, C. Venditti   +15 more
semanticscholar   +1 more source

Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia. [PDF]

Cureus, 2023
Methylmalonic acidemia (MMA) is a genetic condition affecting cobalamin metabolism causing elevated serum and urine methylmalonic acid without B12 deficiency. MMA presents with ketoacidotic hyperammonemic coma in newborns and can result in neonatal death
Cocuzzo B, Kalirao S.
europepmc   +2 more sources

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature. [PDF]

J Med Case Rep, 2023
Background Persistent pulmonary hypertension of the newborn manifesting with refractory and severe cyanosis is the consequence of high pulmonary vascular resistance causing extrapulmonary right-to-left shunt.
Hemmati F, Barzegar H.
europepmc   +2 more sources

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia. [PDF]

J Med Case Rep
Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular hypotonia.
Hakimzadeh Z, Gilani A, Yousefichaijan P, Sarmadian R.   +3 more
europepmc   +2 more sources

Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China. [PDF]

World J Pediatr
Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA.
Jiang YZ, Zhou GP, Wei L, Qu W, Zeng ZG, Liu Y, Tan YL, Wang J, Zhu ZJ, Sun LY.   +9 more
europepmc   +2 more sources