γ-Hydroxybutanoic acid (GHB) is used as a date-rape drug, which renders the victims unconscious and defenceless. Intoxications are very difficult to detect for forensic scientists due to rapid metabolism to endogenous levels of GHB. We recently discovered a new major metabolite, 2, of GHB (1) that could potentially extend the analytical detection window for GHB intoxications. Herein we disclose...

OBJECTIVE To examine racial variation in the poor control of GHb, a GHb value >9.5%, or GHb not tested in 1999 among Medicare beneficiaries aged 65-75 years enrolled in managed care plans. RESEARCH DESIGN AND METHODS The National Committee on Quality Assurance provides person-level data regarding diabetes care services and control for Medicare beneficiaries enrolled in managed care to the Cen...

Racemize 2-hydroxybutyric acid is usually synthesized by organic methods and needs additional deracemization to obtain optically pure enantiomers for industrial application. Here we present a cascade biocatalysis system in Escherichia coli BL21 which employed L-threonine deaminase (TD), NAD-dependent L-lactate dehydrogenase (LDH) alcohol (ADH) producing (S)-2-hydroxybutyric ((S)-2-HBA) from bul...

Glutaric acid has been shown to be an intermediate in the mammalian catabolism of lysine (1). Two routes have been proposed for the degradation of glutaric acid (2-5). One pathway yields acetate, and the other involves a direct conversion to the carbon chain of ac-ketoglutarate. In an effort to assess the relative importance of each pathway, we have studied the metabolism of glutaric acid-3-Cl4...

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...

A 35-year-old-man presented with nephrotic syndrome due to mesangiocapillary glomerulonephritis; he later developed a potassium-losing state, generalized amino aciduria and glycosuria. Clinical and biochemical improvement occurred after steroid therapy. The possible pathophysiological mechanisms are discussed.

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.