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Debrancher deficiency (oligo-1,4-glucantransferase and alpha-1,6-glucosidase deficiency; Forbes-Cori disease) is a generalized enzyme defect that blocks glycogenolysis at a branch points in the glycogen molecule, so that only the terminal chains of glycogen are accessible for hydrolysis by glycogen phosphorylase. The disease is usually a benign disorder of childhood associated with hepatomegaly and fasting hypoglycemia Continue reading →

Acid Maltase Deficiency

Acid maltase deficiency is a generalized enzyme defect that blocks lysosomal degradation of glycogen but does not affect the energy-yielding process of glycogenolysis. A fatal infantile form of the disease (Pompe’s disease) is associated with hypotonia and cardiopulmonary failure. Continue reading →

PGAM deficiency is due to deficiency of the muscle form of the enzyme PGAM. The symptoms are limited to muscle and include exercise intolerance, cramps, and recurrent myoglobinuria.

PGAM deficiency, like muscle LDH deficiency, retains some (usually about 5%) residual activity attributable to the presence in muscle of a small amount of another enzyme isoform. Continue reading →

Symptoms of PFK deficiency are similar to those of myophosphorylase deficiency. Patients may experience premature muscle fatigue and may be subject to exertional pain, cramping, and nausea, and to recurrent exertional myoglobinuria. Fixed muscle weakness associated with muscle atrophy and fatty replacement are common with advancing age. Continue reading →

McArdle’s patients experience lifelong premature exertional fatigue and are subject to exertional muscle pain, contractures, and rhabdomyolysis when muscle energy demands exceed supply. Later in life, McArdle’s patients may develop fixed weakness.

The main goals for managing patients with McArdle’s disease are to improve exercise tolerance and to reduce the frequency and severity of muscle injury. Success hinges on efforts to avoid patterns of activity that require glycogen as an energy source and to promote the utilization of preserved energy pathways - especially lipid oxidation - to meet muscle energy needs. Continue reading →

Many neuromuscular conditions, particularly metabolic disorders of skeletal muscle, typically result in one or more of the following symptoms that limit exercise performance. Although these symptoms are often present from childhood, the diagnosis may be delayed for years or decades. Continue reading →

The Canadian Journal of Cardiology is published 12 times a year by Pulsus Group Inc.

Just over 20 years ago, the World Health Organization resolved to embark on a very ambitious multinational study, the MONItoring trends and determinants in CArdiovascular Disease, or The MONICA Project, as it became known. Two essential hypotheses were to be tested over a span of 10 years (1). The first related any change in incidence of acute myocardial Continue reading →

Memorial University of Newfoundland, St John’s, Newfoundland
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When considering rejuvenating the upper eyelids, it must be understood that with age, the eyebrow (Table 1) gravitates downward, causing a pseudodermachalasis of the upper eyelids. This, in turn, is responsible for static crow’s feet, and with a receding hairline we get widening of the forehead. Because the eyebrow is low, it is raised to improve the appearance (in front of the mirror or when meeting someone) or field of vision. As a consequence, the frontalis, procerus and corrugator muscles hypertrophy and forehead wrinkles develop. Continue reading →