Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

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Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

BACKGROUND McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance, myoglobinuria rhabdomyolysis and acute renal failure. OBJECTIVES To review systematically the evidence from randomized controlled trials of pharmacological or nutritional treatments for improving exercise performance and quality of life in McArdle disea...

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Type V glycogen storage disease.

We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.

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Glycogen storage disease (type-III).

Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...

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Glycogen storage disease type IV, amylopectinosis.

Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our understanding of this group of diseases. Of the 6 types in which the biochemical abnormality has been characterized, the least common appears to be type IV, amylopectin-osis. The first case was described by Andersen in 1952, and the glycogen present in the liver and other orga...

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Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

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ژورنال

عنوان ژورنال: Cochrane Database of Systematic Reviews

سال: 2014

ISSN: 1465-1858

DOI: 10.1002/14651858.cd003458.pub5