Glutarylcarnitine是什么
WebSep 30, 2024 · Glutaric acidemia type 1 (GA1) is caused by glutaryl-CoA dehydrogenase deficiency that leads to a blockage in the metabolic route of the amino acids lysine and tryptophan and subsequent accumulation of glutaric acid (GA), 3-hydroxyglutaric acids and glutarylcarnitine (C5DC). Patients predominantly m … WebElevated glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1. Urine C5-DC is a biochemical marker of GA-1 that appears to be elevated even in low excretors, who are …
Glutarylcarnitine是什么
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WebResult ID Test Result Name Result LOINC Value; 82413: Acylcarnitines, Quantitative, P: 46252-3: 10288: Acetylcarnitine, C2: 30191-1: 36497: Acrylylcarnitine, C3:1 WebApplication: Glutarylcarnitine is a metabolite of L-Carnitine. CAS Number: 102636-82-8. Purity: ≥90%. Molecular Weight: 275.30. Molecular Formula: C 12 H 21 NO 6. For Research Use Only. Not Intended for Diagnostic or Therapeutic Use. * Refer to Certificate of Analysis for lot specific data (including water content). RECEIVE –15–CRUZ ...
WebMalonylcarnitine and glutarylcarnitine are important diagnostic metabolites in the screening of dried blood spots by tandem mass spectrometry. The stability of these compounds in … WebNational Center for Biotechnology Information
WebAug 1, 2024 · The characteristic metabolites GA, 3-OH-GA, glutaconic acid and glutarylcarnitine (C5DC) can be detected in body fluids (urine, plasma, CSF) and … WebThe supernatant is evaporated and the residue treated with n-butanolic hydrochloric acid yielding the acylcarnitines for analysis as their n-butyl esters.(Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D: The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
WebOct 19, 2024 · The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005;84:137–143. CAS PubMed Google Scholar
WebJan 14, 2024 · Malonylcarnitine和Glutarylcarnitine是通过串联质谱法筛选干血斑的重要诊断代谢物[1]。 参考文献 [1]. Johnson DW, et al. Stability of malonylcarnitine and … indias contribution to world bankWebGlutarylcarnitine C12H21NO6 CID 53481622 - structure, chemical names, physical and chemical properties, classification, patents, … lockheed martin mq 25WebGlutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products ( glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain … india scooter familyWeb3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the lockheed martin mountain viewWebconfirm the diagnosis, the metabolic specialist will consider analyzing glutarylcarnitine in urine and 3-hydroxyglutaric acid in blood and CSF, enzyme assay in fibroblasts, and molecular analysis of the GCDH gene. The neonate with glutaric acidemia type I is usually macrocephalic but otherwise asymptomatic. Later signs include metabolic ... india scooter companyWebNov 11, 2024 · The glutaric acidurias are a group of inborn errors of metabolism with different etiologies. Glutaric aciduria type 3 (GA3) is a biochemical phenotype with uncertain clinical relevance caused by a deficiency of succinyl-CoA:glutarate-CoA transferase (SUGCT). SUGCT catalyzes the succinyl-CoA-dependent conversion of glutaric acid into … lockheed martin morningstarWebJul 7, 2024 · PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, … lockheed martin moto