Methylmalonic Acid
Mostrando 1-12 de 26 artigos, teses e dissertações.
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1. Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
Abstract Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia. Isolated remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase(MTRR), methionine synthase(MTR), and MMADHC genes, and combined remethylation defects are the result of mutations in genes invol
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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2. Hampered Vitamin B12 Metabolism in Gaucher Disease?
Abstract Untreated vitamin B12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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3. Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuramic acid concentration in cerebrum of young rats
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 life. MMA doses ranged from 0.76 to 1.67 µmol/g as a function of animal age. Control rats were treated
Publicado em: 2010
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4. ATIVIDADE ANTICONVULSIVANTE DO ÓLEO DE PEIXE / ANTICONVULSANT ACTIVITY OF FISH OIL
Methylmalonic acidemias are inherited metabolic disorders characterized by methylmalonate (MMA) accumulation and neurological dysfunction, including seizures. Dietary fatty acids are known as an important energy source and reduce seizure activity in selected acute animal models. This study investigates whether the chronic treatment with fish oil or with olei
Publicado em: 2010
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5. PROSTAGLANDIN E2 POTENTIATES METHYLMALONATE-INDUCED SEIZURES / PROSTAGLANDINA E2 POTENCIALIZA AS CONVULSÕES INDUZIDAS POR METILMALONATO
Methylmalonic acidemias comprehend a group of innate error of the metabolism (EIM)characterized clinically and biochemically for the tissue accumulation of acid methylmalonic (MMA)and neurological dysfunction, including seizures. The clinical experience suggests that infections precipitate metabolic crises in methylmalonic acidemic patients. Since it has bee
Publicado em: 2009
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6. β - NADH DIMINUI A SENSIBILIDADE DA SUCINATO DESIDROGENASE A INIBIÇÃO POR ÁCIDO METILMALÔNICO / β-NADH REDUCES SUCCINATE DEHYDROGENASE SENSITIVITY TO THE COMPETITIVE INHIBITOR METHYLMALONIC ACID IN CEREBRAL CORTEX OF RATS
Methylmalonic acidemia, one of the most frequent organic acidemias, is caused by deficiency of the methylmalonyl CoA mutase, leading to tissue accumulation of Lmethylmalolonic acid (MMA). Affects individuals present lethargy, coma, vomiting, muscular hypotonia, recurrent episodes of metabolic acidosis and progressive encephalopathy. In this context, it has b
Publicado em: 2007
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7. Poliformismos dos genes VEGF, MTHFR e MTR e fatores de risco na doença arterial coronária.
Coronary atherosclerosis results from interaction among environmental and genetic risk factors. In this sense, the objective of this study was to investigate the frequencies of VEGF gene polymorphisms, related to the development of new vessels, and of MTHFR e MTR genes polymorphisms, involved in the homocysteine metabolism (Hcy), associated to the formation
Publicado em: 2006
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8. EFEITO DA ADMINISTRAÇÃO AGUDA DE CREATINA SOBRE A MEMÓRIA EM RATOS / EFFECT OF THE SYSTEMIC INJECTION OF CREATINE ON THE MEMORY OF RATS
Glucose is the most important energy substrate for the central nervous system. Besides its energetic function, glucose facilitates memory in experimental animals, an effect that has been related to its energy functions. Other important cerebral energy substrate is creatine, which is endogenously synthesized and converted to phosphocreatine, an immediate and
Publicado em: 2005
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9. Disfunção mitocondrial induzida por metilmalonato e 3-nitropropionato / Mitochondrial dysfunction induced by methylmalonate and 3-nitropropionate
A acidemia metilmalônica (MMAemia) é uma desordem metabólica hereditária do metabolismo de aminoácidos com cadeia ramificada e de ácidos graxos com cadeia ímpar, envolvendo um defeito na conversão de metilmalonil-CoA a succinil-CoA. Manifestações sistêmicas e neurológicas nesta doença são relacionadas com o acúmulo de metilmalonato (MMA) em te
Publicado em: 2004
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10. Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuraminic acid concentration in cerebrum of young rats
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 life. MMA doses ranged from 0.76 to 1.67 µmol/g as a function of animal age. Control rats were treated
Brazilian Journal of Medical and Biological Research. Publicado em: 2001-02
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11. Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry.
To determine the incidence of elevated levels of serum methylmalonic acid in patients with cobalamin deficiency, we utilized a new capillary gas chromatographic-mass spectrometric technique to measure methylmalonic acid in the serum of 73 patients with clinically confirmed cobalamin deficiency. Values ranged from 55 to 22,300 ng/ml, and 69 of the 73 patients
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12. [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate.
[Alpha-13C]- and [alpha,beta-13C]valine were administered sequentially to a patient with methylmalonicacidemia to clarify the metabolic pathway of valine from methylmalonic acid semialdehyde to methylmalonyl-CoA. Methylmalonic acid was isolated from multiple urine samples, purified, and analyzed by 13C nuclear magnetic resonance spectroscopy. Contrary to the