Asymmetric synthesis of diarylmethylamines with high enantioselectivity (95-99% ee) was realized by use of a new C2-symmetric diene ligand, (1R,4R)-2,5-diphenylbicyclo[2.2.2]octa-2,5-diene (Ph-bod*), for the rhodium-catalyzed asymmetric arylation of N-tosylarylimines with arylboroxines.

The enantioselective synthesis of 2-(arylmethyl)- and 2-(alkenylmethyl)pyrrolidine derivatives via Pd-catalyzed alkene carboamination reactions is described. These transformations generate enantiomerically enriched products with up to 94% ee from readily available alkenyl or aryl bromides and N-boc-pent-4-enylamines. The application of this method to a concise asymmetric synthesis of (-)-tyloph...

The case of an 8-year-old boy complaining easy tiredness, poor exercise tolerance and high CPK blood level is described. diagnosis glutaric aciduria type II was finally made.

2003;21:401–7. 6. Ensenauer R, Muller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. J Inherit Metab Dis 2000;23:341–4. 7. Hou JW, Wang TR. 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. J Inherit Metab Dis 1995;18:645–6. 8. Jooste S, Erasmus E, Mienie LJ, de Wet W...

We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare i...

A current difficulty with the prenatal diagnosis of inborn errors of metabolism is the relatively large numbers of cultured amniotic fluid cells necessary for most enzyme assays. Faced recently with the problem of diagnosing the fetus in a family at risk for recurrence of argininosuccinic aciduria, a rare autosomal recessive disease characterized biochemically by a deficiency of argininosuccina...

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an ...

We investigated the use of a diode array detector in conjunction with isocratic cation-exchange liquid chromatography for detection of organic acids in urine. The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure ...

We describe 2 brothers with L-2-hydroxyglutaric aciduria who developed severe spastic tetraparesis in their 30s. They also had an underlying condition of high-grade cervical spinal canal stenosis diagnosed by magnetic resonance imaging. They were operated on to decompress the spine, and the preexisting gait disturbances slowly diminished after the decompression. Since most people with L-2-hydro...