BACKGROUND L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria. CASE PRESENTATION We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the m...

A series of tunable axial chiral bisphosphine ligands have been synthesized from (S)-MeO-Biphep. The Ir complex of the MeO-PEG-supported ligand (S)-4k has been successfully applied in asymmetric hydrogenation of quinolines with up to 92% ee. The catalyst system is air-stable and recyclable.

The direct chiral Lewis acidic enantioselective chlorination and fluorination of beta-keto phosphonates is presented; the chlorination proceeds in high yields and with up to 94% ee using NCS as the chloro source, while the fluorination with (PhSO2)2NF (NFSI) gives the optically active alpha-fluoro-beta-keto phosphonates in moderate to good yields and with up to 91% ee.

A Super Flavor Factory, an asymmetric energy ee collider with a luminosity of order 10 cms, can provide a sensitive probe of new physics in the flavor sector of the Standard Model. The success of the PEP-II and KEKB asymmetric colliders [1, 2] in producing unprecedented luminosity above 10 cms has taught us about the accelerator physics of asymmetric ee colliders in a new parameter regime. Furt...

1. The time-course of urinary excretion of [15N]urea and [lSN]argininosuccinate or [''Nlarginine after an oral dose of [15N]ammonium lactate has been followed in patients with argininosuccinic aciduria and cystine-lysinuria respectively. The labelled argininosuccinate and arginine appeared more slowly than expected on simple precursor-product models. 2. In the patient with argininosuccinic acid...

Orotic acid (OA) is an intermediate of pyrimidine nucleotide biosynthesis. Hereditary deficiencies in some enzymes associated with pyrimidine synthesis or the urea cycle induce OA accumulation, resulting in orotic aciduria. A link between patients with orotic aciduria and hypertension has been reported; however, the molecular mechanisms remain elusive. In this study, to elucidate the role of OA...

BACKGROUND MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. OBJECTIVES To report transient neonatal renal findings in MEGDEL syndrome. RESULTS This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration w...

OBJECTIVE To estimate the prevalence of the Inborn Errors of Metabolism (IEM), evaluate biomarker distributions and determine benefits of screening for the inborn errors of metabolism in Andhra Pradesh, India, using Tandem Mass Spectrometry (MS/MS). METHODS The 4,946 newborns born during the period 2006-2008 in four major Government Maternity Hospitals in a rural district in Andhra Pradesh, I...