PubMed · 4882386
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J Badoual, H Lestradet. 1968. [Glycogenoses].. https://pubmed.ncbi.nlm.nih.gov/4882386/
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Glycogen storage disease (GSD) types II, III, IV, and V may be associated with cardiomyopathy, but, with the exception of type III GSD, adult cases are extremely rare. A 62-year-old man was found to have GSD and a concomitant left ventricular aneurysm. He had been comparatively well until the age of 62 years, although he had suffered a cerebral infarction at the age of 35 years. The damage caused by glycogen deposition was strictly confined to the myocardium. Left ventriculography revealed a left ventricular aneurysm in the apex. The serial change on electrocardiogram, as well as the findings of the echocardiogram and of cardiac catheterization, resembled those of the dilated phase of hypertrophic cardiomyopathy. However, a left ventricular endomyocardial biopsy specimen revealed central vacuolar degeneration of myocytes with depositions of glycogen. The GSD type remains unknown in the present patient, because the activity of debranching enzyme (type III) measured from the skeletal muscle specimen was normal, whereas that of acid maltase (type II) was slightly low. It is possible that there is a specific malfunction of the acid maltase of the myocardium in the present patient.
Major recent advances in the field of metabolic myopathies have helped delineate the genetic and biochemical basis of these disorders. This progress has also resulted in the development of new diagnostic and therapeutic methodologies. In this second part, we present an updated review of the main nonlysosomal and lysosomal glycogenoses and lipid metabolism defects that manifest with signs of transient or permanent muscle dysfunction. Our intent is to increase the pediatric neurologist's familiarity with these conditions and thus improve decision making in the areas of diagnosis and treatment.
Carbohydrate metabolism in the liver is responsible for plasma glucose homeostasis. Liver glycogen storage diseases are metabolic disorders which result in abnormal storage amounts and/or forms of glycogen, and often (but not always) have hepatomegaly and hypoglycaemia as presenting features. To understand the clinical complexity of the glycogen storage diseases, it is necessary to understand the properties and regulation of the proteins involved in glycogen metabolism. Advances in treatment have greatly improved metabolic control and hence the quality of life and survival. However, the lack of understanding of the molecular basis of some of the clinical features of glycogen storage diseases makes it difficult logically to devise optimal treatment regimens to prevent some of the long-term complications. Recently, molecular biology has greatly advanced our understanding of the proteins and genes involved in liver glycogen metabolism and has led to better and less invasive methods of diagnosis of these disorders.