Results 1 to 10 of about 12,786 (217)

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

Orphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen   +5 more
doaj   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +1 more source

Evaluation of peripheral and autonomic nervous systems dysfunctions in patients with Parkinson’s disease

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Peripheral neuropathy (PN) is increasingly recognized in Parkinson’s disease (PD). This study aimed to evaluate peripheral nerve and autonomic nervous system dysfunction in PD.
Osama A. Ragab, Ehab S. Mohamed, Mahmoud H. Nassar   +2 more
doaj   +1 more source

The Value of Liver Transplantation for Methylmalonic Acidemia

Frontiers in Pediatrics, 2019
Introduction: MMA is a rare autosomal recessive disorder with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment. While conventional long-term medical
Yi-Zhou Jiang, Yi-Zhou Jiang, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

Saudi Journal of Kidney Diseases and Transplantation, 2001
Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid.
Srinivas K, Want Mohammed, Freigoun Osama, Balakrishna N   +3 more
doaj  

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +1 more source

Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuraminic acid concentration in cerebrum of young rats

Brazilian Journal of Medical and Biological Research, 2001
Levels of methylmalonic acid (MMA) comparable to those of human methylmalonic acidemia were achieved in blood (2-2.5 mmol/l) and brain (1.35 µmol/g) of rats by administering buffered MMA, pH 7.4, subcutaneously twice a day from the 5th to the 28th day of
A.M. Brusque, L. Rotta, L.F. Pettenuzzo, D. Junqueira, C.V. Schwarzbold, A.T. Wyse, C.M.D. Wannmacher, C.S. Dutra-Filho, M. Wajner   +8 more
doaj   +1 more source

Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria

Journal of Rehabilitation, 2000
This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
doaj  

Animal models of methylmalonic acidemia: insights and challenges

Orphanet Journal of Rare Diseases
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan, Min Liu, Yue Ma, Meng Sun, Yue Wang, Hui Zou   +5 more
doaj   +1 more source