Sarcosinemia

11/01/2006 - "Preclinical research with a mouse model that is used to study pharmacological modulation of endogenous NMDA receptor-mediated tone may clarify, at least in some instances, varied phenotypic presentations of sarcosinemia that are often clinically benign. "
11/01/2006 - "Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor."

04/01/2016 - "Considering that experimental animal models are useful to investigate the pathophysiology of human disorders, our model of sarcosinemia may be useful for the research of the mechanisms of neurological dysfunction caused by high tissue sarcosine levels."
01/01/2013 - "Sarcosinemia is a rare inborn error of metabolism that is characterised by an increased level of sarcosine (N-methylglycine) in the plasma and urine. "
11/01/2012 - "Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. "
11/22/2018 - "Increased sarcosine concentrations in blood plasma and urine are manifested in sarcosinemia and in some other diseases such as prostate cancer. "
07/01/2019 - "Clinical significance Elevated sarcosine levels are associated with prostate and colorectal cancer, Alzheimer, dementia, stomach cancer and sarcosinemia. "

11/01/2012 - "Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia."
08/01/1999 - "Sarcosine dehydrogenase is a liver mitochondrial matrix flavoenzyme that is defective in patients with sarcosinemia, a rare autosomal metabolic defect characterized by elevated levels of sarcosine in blood and urine. "
08/01/1999 - "Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia."
04/01/1972 - "Sarcosine dehydrogenase deficiency, the enzyme defect in hypersarcosinemia."
08/15/1996 - "The autosomal recessive mouse mutation sarcosinemia (sar), which was discovered segregating in the progeny of a male whose premeiotic germ cells had been treated with the mutagen ethylnitrosourea, is characterized by a deficiency in sarcosine dehydrogenase activity. "

03/01/2009 - "When suspecting sarcosinemia, serum creatinine should be checked against another type of laboratory test."
03/01/2009 - "In a patient with sarcosinemia a dry chemical enzyme analysis which is often used by general practitioners can produce falsely high creatinine levels. "
03/01/2009 - "The creatinine testing assay interfered with an elevated serum sarcosine level, which is found in an inborn error of aminoacid metabolism called sarcosinemia. "
04/01/1992 - "While sarcosine cannot be detected in the urine of plasma of normal mice, the urinary sarcosine level of 102 +/- 58 mmol per g of creatinine in the mutant mice was at the upper range of the urinary levels (1.5-4.5 mmol of sarcosine per g of creatinine) observed in humans with sarcosinemia. "
10/01/1984 - "These four children with sarcosinemia have plasma sarcosine concentrations ranging from 80 to 603 mumol/L and urine sarcosine from 2.1 to 9.4 mumol/mg of creatinine, findings similar to those reported for persons with sarcosinemia. "

11/01/1998 - "The absence of SarDH activity in humans is genetically transmitted and is the cause of an amino acid metabolism disorder called sarcosinemia. "
01/01/2017 - "Sarcosine is an N-methyl derivative of the amino acid glycine, and its elevation in tissues and physiological fluids of patients with sarcosinemia could reflect a deficient pool size of activated 1-carbon units. "
01/01/1980 - "When amino acids were infused at a rate of 4 g/kg/day, an infant with hypoglycemia, metabolic acidemia and chronic regurgitation showed hypersarcosinemia and excreted abnormal amounts of sarcosine, isovalerylglycine, isobutyrylglycine, alpha-methylbutyrylglycine, and beta-hydroxyisovaleric, glutaric, alpha-hydroxyglutaric, methylsuccinic, and alpha-hydroxyisobutyric acids in urine. "

11/01/1971 - "The response in plasma of sarcosine and glycine, after sarcosine loading, distinguished the normal subject from the subjects who were presumably homozygous and heterozygous for the hypersarcosinemia allele. "
01/01/2017 - "Sarcosine is an N-methyl derivative of the amino acid glycine, and its elevation in tissues and physiological fluids of patients with sarcosinemia could reflect a deficient pool size of activated 1-carbon units. "
11/01/1971 - "Sarcosine has no apparent transport system of its own; it uses the low K(m) transport systems for L-proline and glycine to a minor extent and a high K(m) system shared by these substances for the major uptake at concentrations encountered in hypersarcosinemia. "

01/01/1998 - "[Sarcosinemia associated with folate deficiency]."
11/01/1971 - "The hypersarcosinemia is not diminished by dietary folic acid even in pharmacologic doses (30 mg/day). "

04/01/1992 - "A mouse mutant with sarcosinemia was found by screening the progeny of ethylnitrosourea-mutagenized mice for aminoacidurias. "
04/01/1992 - "sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis."
08/15/1996 - "The autosomal recessive mouse mutation sarcosinemia (sar), which was discovered segregating in the progeny of a male whose premeiotic germ cells had been treated with the mutagen ethylnitrosourea, is characterized by a deficiency in sarcosine dehydrogenase activity. "

03/01/2009 - "In a patient with sarcosinemia a dry chemical enzyme analysis which is often used by general practitioners can produce falsely high creatinine levels. "
04/01/1972 - "Sarcosine dehydrogenase deficiency, the enzyme defect in hypersarcosinemia."

07/01/1992 - "Sarcosinemia and abnormality in pipecolic acid metabolism were also classified as inborn errors of imino acid metabolism. "
01/01/1980 - "On all other occasions, when protein intake was lower and lipid intake higher, urine organic acids were dominated by methylsuccinic, ethylmalonic, and alpha-hydroxyglutaric acids, and hypersarcosinemia was absent. "
01/01/1980 - "When amino acids were infused at a rate of 4 g/kg/day, an infant with hypoglycemia, metabolic acidemia and chronic regurgitation showed hypersarcosinemia and excreted abnormal amounts of sarcosine, isovalerylglycine, isobutyrylglycine, alpha-methylbutyrylglycine, and beta-hydroxyisovaleric, glutaric, alpha-hydroxyglutaric, methylsuccinic, and alpha-hydroxyisobutyric acids in urine. "