Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11–15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.Abbreviations NKH
non-ketotic hyperglycinaemia
- CSF
cerebrospinal fluid 相似文献
The conformational analysis of Glycine (Gly) amino acid in the presence of explicit water molecules is done using Molecular Dynamics (MD) simulation for over 10 ns time scale with step of 2 fs. Based on the hydrogen bond interactions, the solvated states of Gly and their distribution functions have been analyzed to identify the number of water molecules which fall within the first and second solvation shells. The ab initio and density functional theory (DFT) methods have been used to study the incremental solvation effect on Gly in gas phase with one to nine water molecules by constructing a hydration shell around Gly. Molecular geometries and energetical parameters of Gly?(W)nn = 1–9 complexes were studied by MP2, B3LYP and B3PW91 methods using 6-311G (2d, 2p) basis set. The interaction energies with BSSE corrections and the strength of the hydrogen bonds have been analyzed. The chemical hardness at HF/6-311G (2d, 2p) level of theory has been calculated for all the optimized structures. The topological analysis has been carried out for the water interacting complexes using Bader’s atoms in molecule (AIM) theory. The charge transfer from the proton acceptor to the anti-bonding orbital of proton donor in Gly?(W)nn = 1–9 complexes has been analyzed through Natural bond orbital (NBO) analysis. NMR calculations have been carried out on the basis of Cheeseman coworkers method at B3LYP/6-311G (2d, 2p) level of theory to analyse the molecular environment as well as the delocalization activities of electron cloud. 相似文献
The separation of six soy isoflavones (Glycitein, Daidzein, Genistein, Daidzin, Glycitin and Genistin) was approached by a 32 factorial design studying MEKC electrolyte components at the following levels: methanol (MeOH; 0–10%) and sodium dodecylsulfate (SDS; 20–70 mmol L−1); sodium tetraborate buffer (STB) concentration was kept constant at 10 mmol L−1. Nine experiments were performed and the apparent mobility of each isoflavone was computed as a function of the electrolyte composition. A novel response function (RF) was formulated based on the productory of the mobility differences, mobility of the first and last eluting peaks and the electrolyte conductance. The inspection of the response surface indicated an optimum electrolyte composition as 10 mmol L−1 STB (pH 9.3) containing 40 mmol L−1 SDS and 1% MeOH promoting baseline separation of all isoflavones in less than 7.5 min.
The proposed method was applied to the determination of total isoflavones in soy germ capsules from four different pharmaceutical laboratories. A 2 h extraction procedure with 80% (v/v) MeOH under vortexing at room temperature was employed. Peak assignment of unknown isoflavones in certain samples was assisted by hydrolysis procedures, migration behavior and UV spectra comparison. Three malonyl isoflavone derivatives were tentatively assigned. A few figures of merit for the proposed method include: repeatability (n = 6) better than 0.30% CV (migration time) and 1.7% CV (peak area); intermediate precision (n = 18) better than 6.2% CV (concentration); recoveries at two concentration levels, 20 and 50 μg mL−1, varied from 99.1 to 103.6%. Furthermore, the proposed method exhibited linearity in the concentration range of 1.6–50 μg mL−1 (r2 > 0.9999) with LOQ varying from 0.67 to 1.2 μg mL−1. The capsules purity varied from 93.3 to 97.6%. 相似文献
A colorimetric method has been developed for the selective analysis of the total iridoid content of the rhizomes of Picrorhiza kurrooa in terms of catalpol. The method of analysis is based on the reaction between iridoid compounds and primary amine. The iridoid glycosides present in P. kurrooa are mainly the esters of catalpol, and can be easily converted into catalpol by saponification. Catalpol thus obtained by hydrolysis is treated with glycine in acidic medium to give a purple color with a maximum absorption of 542 nm. The method was validated as per the ICH guidelines for linearity, accuracy and precision. Several other rhizome samples of the plant were also assayed using this method. The method developed is precise, sensitive, reproducible and easy to perform and can be used for the standardization of crude drug. 相似文献
Spontaneous inhibitory postsynaptic potentials (IPSPs) and evoked IPSPs were recorded from a portion of lateral horn cells situated in thin transverse thoracolumbar spinal cord slices removed from neonatal rats. The IPSPs were reduced by hyperpolarization and inverted at membrane potentials between -65 and -75 mV. Strychnine but not bicuculline reversibly eliminated the IPSPs. The hyperpolarizations elicited by exogenously applied glycine exhibited electrophysiological and pharmacological characteristics similar to that of IPSPs. The results are consistent with the suggestion that glycine mediates an IPSP in a population of lateral horn cells. 相似文献