Results 91 to 100 of about 12,645 (222)

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

Vitamin B12 measurements across neurodegenerative disorders. [PDF]

, 2020
Background:Vitamin B12 deficiency causes a number of neurological features including cognitive and psychiatric disturbances, gait instability, neuropathy, and autonomic dysfunction. Clinical recognition of B12 deficiency in neurodegenerative disorders is
Christine, Chadwick W, Hills, Nancy K, Luthra, Nijee S, Marcus, Ariane H   +3 more
core  

On the Origin of Western Diet Pathologies [PDF]

, 2010
The ratio of the two sulfur-containing amino acids, methionine (Met) and cysteine (Cys), may be a determining factor for which foods contribute to longevity and health. It is shown here that substantially more Met than Cys is consistently found in foods,
John Schloss
core   +1 more source

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

JIMD Reports
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.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +1 more source