In the light of present knowledge hepatolenticular degeneration is classified as a metabolic disease, probably based on an inborn error of metabolism and transmitted by an autosomal recessive gene. The biochemical manifestations of Wilson's disease have been studied extensively and were summarized in several recent reviews (1-4). The findings point to aberrations in copper and protein metabolis...

We evaluated the relationship between amyloid-beta protein (A beta) concentration and the metabolic abnormality in an Alzheimer's disease (AD) patient as measured by [18F]fluorodeoxyglucose positron emission tomography (FDG-PET). Across most regions there were significant inverse correlations among FDG-PET intensity values and both insoluble. The temporal lobe samples showed no significant corr...

Idiopathic haemochromatosis is an inherited defect of iron metabolism characterised by excessive iron absorption and deposition in the tissues leading to damage in the liver and other organs.' The nature of the fundamental metabolic abnormality remains unknown, but the liver and the gut have both been proposed as the principal site of expression of the metabolic defect.' We recently had the opp...

The Pima Indians of Arizona have the highest reported prevalence and incidence of non-insulin-dependent diabetes mellitus (NIDDM) of any population in the world. A cross-sectional and longitudinal study was begun in 1982 to determine the metabolic characteristic(s) that is (are) predictive of the development of NIDDM and to document the sequence of metabolic events that occur with the transitio...

Coronary heart disease is a major cause of morbidity and mortality in Western societies. The metabolic syndrome, characterized by obesity, insulin resistance, elevated blood pressure, elevated triglycerides, and low levels of high-density lipoprotein cholesterol, confers substantial risk of coronary heart disease. Current pathogenetic models suggest that postprandial hyperlipidemia is one speci...

Obesity with associated comorbidities is currently a worldwide epidemic and among the most challenging health conditions in the 21st century. A major metabolic consequence of obesity is insulin resistance which underlies the pathogenesis of the metabolic syndrome. Nonalcoholic fatty liver disease (NAFLD) is the hepatic manifestation of obesity and metabolic syndrome. It comprises a disease spec...

Metabolic and toxicological data were obtained during the first 24 hours following severe and eventually fatal cyanide poisoning. Initial blood cyanide concentrations were 804 mumol/l but fell rapidly over 24 hours following cobalt edetate therapy to 15 mumol/l. However, plasma thiocyanate concentrations rose over 24 hours (147-267 mumol/l) suggesting continued tissue detoxification. The major ...

Insulin resistance is a major player in the pathogenesis of the metabolic syndrome and type 2 diabetes, and yet, the mechanisms responsible for it remain poorly understood. Magnetic resonance spectroscopy studies in humans suggest that a defect in insulin-stimulated glucose transport in skeletal muscle is the primary metabolic abnormality in insulin-resistant type 2 diabetics. Fatty acids appea...

Cardiac disease is commonly associated with changes in energy substrate metabolism. Fatty acid and glucose represent the main fuels used by the heart, and characteristic alterations in substrate preference and utilisation occur early in many cardiac disease processes. Different substrate classes (lipids, carbohydrates) have different metabolic efficiencies, both in terms of energy (ATP) yield a...