Mass Spectrometry and the Diagnosis and Study of Metabolic Disease

1989 ◽  
pp. 597-602
Author(s):  
R. A. Chalmers
Keyword(s):  
Mass Spectrometry ◽  
Metabolic Disease

Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency

2019 ◽  
Vol 44 (4) ◽  
pp. 482-486
Author(s):  
Halil Kazanasmaz ◽  
Meryem Karaca
Keyword(s):  
Mass Spectrometry ◽  
Metabolic Disease ◽  
Screening Program ◽  
Biotinidase Deficiency ◽  
Tandem Mass ◽  
Chromatography Tandem Mass Spectrometry ◽  
Significant Difference ◽  
Liquid Chromatography Tandem Mass ◽  
The Mean ◽  
Biotinidase Activity

Abstract Background Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological and dermatological complications. Biomarkers such as alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH), which are used to diagnose biotinidase deficiency, are also present. Materials and methods In cases with partial biotinidase deficiency and normal biotinidase activity, alanine, C3 and C5-OH levels were compared in the field by liquid chromatography-tandem mass spectrometry. Results There was no significant difference between subjects with partial biotinidase deficiency and those with normal biotinidase activity between C3 and C5-OH levels. The mean alanine levels in heel blood and plasma were significantly higher than those with normal biotinidase activity in patients with partial biotinidase deficiency. Conclusion In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.

scholarly journals Comparative Lipidomics of Caenorhabditis elegans Metabolic Disease Models by SWATH Non-Targeted Tandem Mass Spectrometry

Metabolites ◽  
2015 ◽  
Vol 5 (4) ◽  
pp. 677-696 ◽  
Author(s):  
Jeevan Prasain ◽  
Landon Wilson ◽  
Hieu Hoang ◽  
Ray Moore ◽  
Michael Miller
Keyword(s):  
Mass Spectrometry ◽  
Metabolic Disease ◽  
Caenorhabditis Elegans ◽  
Tandem Mass Spectrometry ◽  
Disease Models ◽  
Tandem Mass

How SIMS microscopy can be used in medicine

1992 ◽  
Vol 50 (2) ◽  
pp. 1602-1603
Author(s):  
Philippe Fragu
Keyword(s):  
Mass Spectrometry ◽  
Biomedical Applications ◽  
Secondary Ion Mass Spectrometry ◽  
Chemical Elements ◽  
Biological Applications ◽  
The Past ◽  
Potential Source ◽  
Secondary Ion ◽  
Chemical Integrity ◽  
Scientific Endeavour

The identification, localization and quantification of intracellular chemical elements is an area of scientific endeavour which has not ceased to develop over the past 30 years. Secondary Ion Mass Spectrometry (SIMS) microscopy is widely used for elemental localization problems in geochemistry, metallurgy and electronics. Although the first commercial instruments were available in 1968, biological applications have been gradual as investigators have systematically examined the potential source of artefacts inherent in the method and sought to develop strategies for the analysis of soft biological material with a lateral resolution equivalent to that of the light microscope. In 1992, the prospects offered by this technique are even more encouraging as prototypes of new ion probes appear capable of achieving the ultimate goal, namely the quantitative analysis of micron and submicron regions. The purpose of this review is to underline the requirements for biomedical applications of SIMS microscopy.Sample preparation methodology should preserve both the structural and the chemical integrity of the tissue.

Imaging of Al-Li-Cu alloys with a Scanning Ion Microprobe

1990 ◽  
Vol 48 (2) ◽  
pp. 314-315
Author(s):  
K.K. Soni ◽  
D.B. Williams ◽  
J.M. Chabala ◽  
R. Levi-Setti ◽  
D.E. Newbury
Keyword(s):  
Mass Spectrometry ◽  
Secondary Ion Mass Spectrometry ◽  
Equilibrium Phase ◽  
Icosahedral Symmetry ◽  
Ion Microprobe ◽  
X Ray ◽  
Cu Alloys ◽  
Two Phases ◽  
The University ◽  
Secondary Ion

In contrast to the inability of x-ray microanalysis to detect Li, secondary ion mass spectrometry (SIMS) generates a very strong Li+ signal. The latter’s potential was recently exploited by Williams et al. in the study of binary Al-Li alloys. The present study of Al-Li-Cu was done using the high resolution scanning ion microprobe (SIM) at the University of Chicago (UC). The UC SIM employs a 40 keV, ∼70 nm diameter Ga+ probe extracted from a liquid Ga source, which is scanned over areas smaller than 160×160 μm2 using a 512×512 raster. During this experiment, the sample was held at 2 × 10-8 torr.In the Al-Li-Cu system, two phases of major importance are T1 and T2, with nominal compositions of Al2LiCu and Al6Li3Cu respectively. In commercial alloys, T1 develops a plate-like structure with a thickness <∼2 nm and is therefore inaccessible to conventional microanalytical techniques. T2 is the equilibrium phase with apparent icosahedral symmetry and its presence is undesirable in industrial alloys.

Applications of Time-OF-Flight Secondary Ion Mass Spectrometry (TOF-SIMS)

1990 ◽  
Vol 48 (2) ◽  
pp. 308-309
Author(s):  
Bruno Schueler ◽  
Robert W. Odom
Keyword(s):  
Mass Spectrometry ◽  
Secondary Ion Mass Spectrometry ◽  
Structural Information ◽  
Time Of Flight ◽  
Biological Tissues ◽  
Polymer Surfaces ◽  
Tof Sims ◽  
Secondary Ions ◽  
Ion Mass Spectrometry ◽  
Secondary Ion

Time-of-flight secondary ion mass spectrometry (TOF-SIMS) provides unique capabilities for elemental and molecular compositional analysis of a wide variety of surfaces. This relatively new technique is finding increasing applications in analyses concerned with determining the chemical composition of various polymer surfaces, identifying the composition of organic and inorganic residues on surfaces and the localization of molecular or structurally significant secondary ions signals from biological tissues. TOF-SIMS analyses are typically performed under low primary ion dose (static SIMS) conditions and hence the secondary ions formed often contain significant structural information.This paper will present an overview of current TOF-SIMS instrumentation with particular emphasis on the stigmatic imaging ion microscope developed in the authors’ laboratory. This discussion will be followed by a presentation of several useful applications of the technique for the characterization of polymer surfaces and biological tissues specimens. Particular attention in these applications will focus on how the analytical problem impacts the performance requirements of the mass spectrometer and vice-versa.

Sign in / Sign up

Export Citation Format

Share Document