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Contains fulltext : 50036.pdf (Publisher’s version ) (Closed access) A diagnosis of 3-methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3-methylglutaconic acid (3MGA), 3-methylglutaric acid (3MG) and 3-hydroxyisovaleric acid (3HIVA) was made in a 61-year-old female patient presenting with leukoencephalopathy slowly progressing over more than 30 years. The diagnosis was confirmed at the enzymatic and molecular level. In vivo brain MR spectroscopic imaging (MRSI) was performed at 3.0 T, and one-dimensional and two-dimensional in vitro NMR spectroscopy of body fluids of the patient was performed at 11.7 T. Additionally, we measured 1D (1)H-NMR spectra of urine of seven patients with a total of four different inborn errors of leucine metabolism. Increased concentrations of 3HIVA, 3MGA (cis and trans) and 3MG were observed in the NMR spectra of the patient's urine. In the cerebrospinal fluid, the 3HIVA concentration was 10 times higher than in the plasma of the patient and only the cis isomer of 3MGA was observed. In vivo brain MRSI showed an abnormal resonance at 1.28 ppm that may be caused by 3HIVA. Comparison of (1)H-NMR spectra of urine samples from all eight patients studied, representing five different inborn errors of leucine metabolism, showed that each disease has typical NMR characteristics. Our leukoencephalopathy patient suffers from a late-onset form of 3-methylglutaconic aciduria type I. In the literature, only very few adult patients with this conditions have been described, and 3HIVA accumulation in white matter in the brain has not been presented before in these patients. Our data demonstrate that (1)H-NMR spectroscopy of urine can easily discriminate between the known inborn errors of leucine metabolism and provide the correct diagnosis.

The oxidation of the methylenediphosphanes 3a,b with hexafluoroacetone does not lead to the expected dioxaphospholane heterocycles, but yields quantitatively the carbodiphosphoranes 5a,b. Compounds 5a,b easily add HCl, HF or Cl2 to the ylidic bonds. The chloro derivative 14b, and its analogue 17 were used for the synthesis of phosphonium substituted carbenes.

A 35-fold excess of methyl triflate (2) is required to quantitively prepare 3, the first phosphanyl phosphenium ion, from diphosphene 1. Experimental data and calculations indicate that the P=P bond becomes stronger upon alkylation.

Erst ein 35facher Uberschus an Methyltriflat 2 bei der Reaktion mit dem Diphosphen 1 fuhrt zur quantitativen Bildung von 3, dem ersten Phosphanylphospheniumion. Experimentelle und theoretische Befunde sprechen dafur, das die P=P-Bindung durch Alkylierung verstarkt wird.