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Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N‐acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease
Author(s) -
Baslow M. H.,
Suckow R. F.,
Hungund B. L.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005618526988
Subject(s) - in vivo , chemistry , osmolyte , biochemistry , ethanol , enzyme , alcohol dehydrogenase , medicine , endocrinology , pharmacology , biology , microbiology and biotechnology
Abstract Hair analysis can be used as a screening tool in the diagnosis of genetic diseases. The scalp hair roots of 67 normal neonates and 39 neonates with glucose‐6‐phosphate dehydrogenase (G6PD) deficiency were analysed using Fourier transform infrared (FT‐IR) microspectroscopy to differentiate the stages of the hair growth cycle and to diagnose the genetic disorder on the basis of spectral differences. We have demonstrated that FT‐IR microspectroscopy is a rapid and effective noninvasive diagnostic method to differentiate scalp hair roots of normal neonates into the anagen, catagen or telogen phases of the hair growth cycle, using IR spectral differences within the 3000–2800cm −1 region and the IR peak area ratio of 2854 cm −1 /2873 cm −1 or 1084 cm −1 /amide II band ( p <0.001). Moreover, G6PD‐deficient neonates could be accurately diagnosed from telogen phase hair roots owing to significant differences in IR peak area ratios of 2854 cm −1 /2873 −1 or 1084 cm −1 /amide II band compared to normal values in healthy neonates. The result suggests that the application of FT‐IR microspectroscopy may be capable not only of differentiating the hair growth cycle into anagen, categen or telogen phases but also of detecting G6PD deficiency. Hair root analysis promises to be a useful complement to serum and urine analysis in the diagnosis of genetic diseases.