Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and leukotrienes, as well as neurotransmission/neuromod...

Bile acids are synthesized by the liver from cholesterol through a complex series of reactions involving at least 14 enzymatic steps. A failure to perform any of these reactions will block bile acid production with failure to produce ‘‘normal bile acids’’ and, instead, result in the accumulation of unusual bile acids and intermediary metabolites. Failure to synthesize bile acids leads to reduce...

(active) and Ab-mediated (passive) enhancement. The opsonization of antigen recognition cells versus production of anti-idiotypic antibody theories of passive enhancement are then presented and evaluated. Subsequent chapters, excellent in depth and coverage, deal with: (i) the role and possible mechanisms of action of antiidiotypic antisera on Band T-lymphocytes; (ii) the use of donor-specific ...

Generic sentences (such as ‘‘Birds lay eggs’’) are important in that they refer to kinds (e.g., birds as a group) rather than individuals (e.g., the birds in the henhouse). The present set of studies examined aspects of how generic nouns are understood by English speakers. Adults and children (4and 5-year-olds) were presented with scenarios about novel animals and questioned about their propert...

The group of diseases called "inborn errors of metabolism" are usually characterized by an inherited defect of an enzyme catalytic activity leading to a metabolic block with an accumulation of metabolites before and a lack of metabolites behind the block (see Figure 1). The substrate which cannot be properly degraded because of such a block is metabolized on other minor pathways and induces an ...

A powerful longitudinal study has failed to find any evidence that newborn babies can imitate facial gestures, hand movements or vocalisations. After 40 years of uncertainty, these findings indicate that humans learn to imitate; this capacity is not inborn.

Inherited metabolic diseases, as a group, present a particular challenge for the general paediatrician. The diseases are individually rare, and most generalists have little experience with their diagnosis and management. In addition, the clinical presentation of the diseases often mimics common acquired conditions, especially infections, intoxications, and some nutritional deficiency disorders....

BACKGROUND Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern Province of Saudi Arabia. METHODS This retrospective case control study was done from April 2006 to 2009. Children with any birth defect or meta...

BACKGROUND The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders. METHODS We performed 1H-NMR spectroscopy on 500 and 600 MHz instruments with a standardized sample volume of 500 microL. We studied body fluids from 25 patients with nine inborn errors of purine and pyri...