s adenosylmethionine/tūska

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S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

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Ielogoties Reģistrēties

This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.

Role of S-adenosylmethionine in two experimental models of pancreatitis.

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Severe necrotizing pancreatitis occurs in young female mice fed a choline-deficient and ethionine-supplemented (CDE) diet. Although the mechanism of the pancreatitis is unknown, one consequence of this diet is depletion of hepatic S-adenosylmethionine (SAM). SAM formation is catalyzed by methionine

S-adenosylmethionine decarboxylase activity is decreased in the rat cortex after traumatic brain injury.

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S-Adenosyl-L-methionine decarboxylase (SAMdc) and L-ornithine decarboxylase (ODC) are major enzymes regulating polyamine synthesis. Following ischemia, putrescine content increases as a result of posttraumatic activation of ODC and inhibition of SAMdc. These alterations are thought to mediate edema

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

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Studies were carried out to identify the cause of combined severe hypermethioninemia and moderate hyperhomocysteinemia in a cluster of 10 infants ascertained between 1999 and early 2001. Although several were thought initially to have cystathionine beta-synthase (CBS) deficiency and treated

Effects of decreased availability of sulfur amino acids in severe childhood undernutrition.

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In studies of glutathione (GSH) metabolism in children with severe childhood undernutrition (SCU), slower erythrocyte GSH synthesis in children with edema was associated with lower concentrations of cysteine, the rate-limiting precursor of GSH synthesis. This finding suggested a shortage of cysteine

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism

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Ielogoties Reģistrēties

The metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation,

Blockade of the trans-sulfuration pathway in acute pancreatitis due to nitration of cystathionine β-synthase.

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Ielogoties Reģistrēties

Acute pancreatitis is an inflammatory process of the pancreatic gland that may lead to dysregulation of the trans-sulfuration pathway. The aims of this work were firstly to study the methionine cycle as well as the trans-sulfuration pathway using metabolomic and proteomic approaches identifying the

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

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Ielogoties Reģistrēties

S-adenosylmethionine (SAM) is the predominant methyl group donor and has a large spectrum of target substrates. As such, it is essential for nearly all biological methylation reactions. SAM is synthesized by methionine adenosyltransferase from methionine and ATP in the cytoplasm and subsequently

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