Guanidinoacetate
Mostrando 1-9 de 9 artigos, teses e dissertações.
-
1. Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such as muscular hypotonia, involuntary extrapyramidal mo
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
2. Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
Abstract Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates. The introduction of second-tier testing has improved the specificity of screening for a number of disorders without any corresponding sacrifice
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
3. Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina
Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoat
Publicado em: 2010
-
4. GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta
The GATM gene encodes L-arginine:glycine amidinotransferase, which catalyzes the conversion of L-arginine into guanidinoacetate, the rate-limiting step in the synthesis of creatine. Since, deficiencies in creatine synthesis and transport lead to certain forms of mental retardation in human, the human GATM gene appears to be involved in brain development. Rec
Genetics and Molecular Biology. Publicado em: 2005-03
-
5. Molecular cloning, sequence analysis, and expression in Escherichia coli of the cDNA for guanidinoacetate methyltransferase from rat liver.
Five cDNA clones encoding rat liver guanidinoacetate methyltransferase (S-adenosyl-L-methionine: guanidinoacetate N-methyltransferase, EC 2.1.1.2) were isolated from a lambda gt11 cDNA library by use of a polyclonal antibody to the purified enzyme. Sequence analysis of the longest cDNA indicated that it consisted of 711 base pairs (bp) of coding region, 51 b
-
6. Nucleotide sequence of the rat guanidinoacetate methyltransferase gene.
-
7. Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Patients with gyrate atrophy of the choroid and retina have 10- to 20-fold increased ornithine concentrations in body fluids and significantly reduced activity of ornithine aminotransferase in lymphocytes and cultured fibroblasts. We administered intravenous arginine to six patients and six controls to study in vivo inhibition by high ornithine concentration
-
8. X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and plasma was increased, and guanidinoacetate levels were normal
The American Society of Human Genetics.
-
9. S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism
We report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor development was slow until his fifth month; thereafter, virtually absent until treatment was started. He had marked hypotonia with elevated serum creatine kinase and transaminases, prolonged prothrombin time and low albumin. Electron
National Academy of Sciences.