Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.
The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradation of glycogen. In the past decade, considerable progress has been made in identifying the precise genetic abnormalities that cause the specific impairments of enzyme function. Likewise, improved understanding of the pathophysiologic derangements resulting from individual enzyme defects has led to the development of effective nutritional therapies for each of these disorders. Meticulous adherence to dietary therapy prevents hypoglycemia, ameliorates the biochemical abnormalities, decreases the size of the liver, and results in normal or nearly normal physical growth and development. Nevertheless, serious long-term complications, including nephropathy that can cause renal failure and hepatic adenomata that can become malignant, are a major concern in GSD-I. In GSD-III, the risk for hypoglycemia diminishes with age, and the liver decreases in size during puberty. Cirrhosis develops in some adult patients, and progressive myopathy and cardiomyopathy occur in patients with absent GDE activity in muscle. It remains unclear whether these complications of glycogen storage disease can be prevented by dietary therapy. Glycogen storage diseases caused by lack of phosphorylase activity are milder disorders with a good prognosis. The liver decreases in size, and biochemical abnormalities disappear by puberty.
Wolfsdorf
J I
JI
Department of Pediatrics, Harvard Medical School, Boston, Massachussetts, USA.
Holm
I A
IA
Weinstein
D A
DA
D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency / Q000235:genetics; D006008:Glycogen Storage Disease / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006006:Glycogen Synthase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D010641:Phenotype; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics
D006004:Glycogen Debranching Enzyme System; D006005:Phosphorylases; D006006:Glycogen Synthase; D010764:Phosphorylase Kinase; C030563:amylo-1,6-glucosidase