Methylmalonic Acidemia
Mostrando 1-12 de 17 artigos, teses e dissertações.
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1. Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns
Abstract Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections) actually decompensate in the neonatal period. In this study, we performed metabolic tests on 2025 newborns in Mexico admitted to 35 neonatal in
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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2. 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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3. 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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4. Envolvimento do sistema GABAérgico nas alterações comportamentais eletrencefalográficas e neuroquímicas induzidas pela injeção de metilmalonato no ventrículo de ratos
O ácido metilmalônico (MMA) é um agente convulsivante endógeno que se acumula na acidemia metilmalônica, um erro inato no metabolismo caracterizado por disfunções neurológicas severas, predispondo ao aparecimento de convulsão. O mecanismo responsável pelas convulsões induzidas pelo MMA envolve a ativação do receptor NMDA. O envolvimento GABAérg
Publicado em: 2007
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5. 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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6. 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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7. 3-Hydroxypropionate: Significance of β-Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic Acidemia
[l-14C]Propionate administered intravenously was metabolized to methylmalonate, to 3-hydroxypropionate, and to methylcitrate in the urine of a patient with methylmalonic acidemia. L-[U-14C]Isoleucine and L-[U-14C]valine were also converted to urinary methylmalonate and to 3-hydroxypropionate in the patient. Two patients with propionic acidemia due to a defec
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8. CONGENITAL METHYLMALONIC ACIDEMIA: ENZYMATIC EVIDENCE FOR TWO FORMS OF THE DISEASE*
Methylmalonic acidemia is an inherited metabolic disorder thus far found in children and characterized by the excessive excretion of methylmalonate in the urine. Typically these children exhibit vomiting, lethargy, ketoacidosis, and failure to grow. Many of the patients are mentally retarded and die early in life. Two variants of this disease are known. In o
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9. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
Methylmalonyl-CoA mutase (EC 5.4.99.2) is a mitochondrial matrix enzyme whose activity is deficient in the inherited disorder methylmalonic acidemia. Previous studies on primary fibroblast cell lines from patients with methylmalonic acidemia have delineated a variety of biochemical phenotypes underlying this disorder. One cell line with primary mutase apoenz
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10. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
In the search for the mechanism by which hyperammonemia complicates propionic and methylmalonic acidemia the effects of a series of acyl-coenzyme A (CoA) derivatives were studied on the activity of N-acetylglutamate synthetase in rat liver mitochondria using acetyl-CoA as substrate. Propionyl-CoA was found to be a competitive inhibitor. The inhibition consta
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11. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
Isodisomy (ID) is a genetic anomaly defined as the inheritance of two copies of the same genetic material from one parent. ID in an offspring is a rare cause of recessive genetic diseases via inheritance of two copies of a mutated gene from one carrier parent. We studied a newborn female with a mut(o) of methylmalonic acidemia and complete absence of insulin
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12. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
We developed a radioimmunoassay to quantitate material crossreacting immunochemically with human methylmalonyl-CoA mutase (methylmalonyl-CoA CoA-carbonylmutase, EC 5.4.99.2), and have applied this assay to extracts of fibroblasts from controls and from 32 patients with methylmalonic acidemia due to inherited deficiencies in mutase activity. Four control line