SMP0000581
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Glycogenosis, Type IA. Von Gierke Disease
Glycogenosis, Type IA, also called Von Gierke Disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective glucose-6-phosphatase. Glucose-6-phosphatase catalyzes the conversion of glucose 6-phosphate into D-glucose and conversion of D-glucose to glucose 6-phosphate. Symptoms of the disorder include hypoglycemic seizures, lactic acidosis, hyperuricemia, etc. Treatment with diet management is very effective.
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SMP0000573
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Glycogenosis, Type IB
Glycogenosis, Type IB, also called von Gierke disease or GSDI, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder which caused by a defective glucose-6-phosphate translocase. Glucose-6-phosphate translocase transports glucose 6-phosphate from endoplasmic reticulum (ER) to cell, which glucose 6-phosphate is required for various pathways as the substrate. This disorder damages the ability of converting glycogen into glucose. Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective.
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SMP0125794
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Glycogenosis, Type IB
Glycogenosis, Type IB, also called von Gierke disease or GSDI, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder which caused by a defective glucose-6-phosphate translocase. Glucose-6-phosphate translocase transports glucose 6-phosphate from endoplasmic reticulum (ER) to cell, which glucose 6-phosphate is required for various pathways as the substrate. This disorder damages the ability of converting glycogen into glucose. Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective.
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SMP0000574
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Glycogenosis, Type IC
Glycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. Glucose-6-phosphate translocase transports glucose 6-phosphate from endoplasmic reticulum (ER) to cell, which glucose 6-phosphate is required for various pathways as the substrate. This disorder damages the ability of converting glycogen into glucose. Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective. Currently, only few cases have been reported.
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SMP0125795
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Glycogenosis, Type IC
Glycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. Glucose-6-phosphate translocase transports glucose 6-phosphate from endoplasmic reticulum (ER) to cell, which glucose 6-phosphate is required for various pathways as the substrate. This disorder damages the ability of converting glycogen into glucose. Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective. Currently, only few cases have been reported.
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SMP0000553
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Glycogenosis, Type III. Cori Disease, Debrancher Glycogenosis
Glycogen storage disease type III, which is also known as GSD III or Cori disease, is a rare inherited inborn error of metabolism (IEM). GSD-III has an incidence of about 1 in 100 000. The incidence of GSD-III is higher in North African Jews (1 in 5 400), Faroese (1 in 3 100) and the Inuit population in Nunavik, Canada (1 in 2 500). GSDIII is an autosomal recessive metabolic disorder characterized a deficiency in glycogen debranching enzymes, specifically the enzyme amylo-1,6 glucosidase. GSD III causes a buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSD III typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later in life. GSD III is divided into the types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc affect primarily the liver and muscles. This is in direct contrast to GSD types IIIb and IIId which affect only the liver. Differentiating between the types of GSD III which affect the same tissue is extremely challenging. Out of all the GSD types, IIIa and IIIb are the condition's most common forms. Treatment for glycogen storage disease type III may involve a high-protein diet, in order to facilitate gluconeogenesis.
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SMP0125759
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Glycogenosis, Type III. Cori Disease, Debrancher Glycogenosis
Glycogen storage disease type III, which is also known as GSD III or Cori disease, is a rare inherited inborn error of metabolism (IEM). GSD-III has an incidence of about 1 in 100 000. The incidence of GSD-III is higher in North African Jews (1 in 5 400), Faroese (1 in 3 100) and the Inuit population in Nunavik, Canada (1 in 2 500). GSDIII is an autosomal recessive metabolic disorder characterized a deficiency in glycogen debranching enzymes, specifically the enzyme amylo-1,6 glucosidase. GSD III causes a buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSD III typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later in life. GSD III is divided into the types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc affect primarily the liver and muscles. This is in direct contrast to GSD types IIIb and IIId which affect only the liver. Differentiating between the types of GSD III which affect the same tissue is extremely challenging. Out of all the GSD types, IIIa and IIIb are the condition's most common forms. Treatment for glycogen storage disease type III may involve a high-protein diet, in order to facilitate gluconeogenesis.
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SMP0000554
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Glycogenosis, Type IV. Amylopectinosis, Anderson Disease
Glycogen storage disease type IV, also called GSD IV, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective 1,4-alpha-glucan-branching enzyme. 1,4-alpha-glucan-branching enzyme catalyzes the conversion of amylose into glycogen which is essential component for cells to build up bodies. Symptoms of the disorder happen mainly in infants, which include failure to thrive, loss weight, enlarged liver and spleen, etc. Treatment with strict dietary therapy is effective in some cases. It is estimated that GSD IV affects 1 in 600,000 to 800,000 individuals worldwide.
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SMP0125760
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Glycogenosis, Type IV. Amylopectinosis, Anderson Disease
Glycogen storage disease type IV, also called GSD IV, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective 1,4-alpha-glucan-branching enzyme. 1,4-alpha-glucan-branching enzyme catalyzes the conversion of amylose into glycogen which is essential component for cells to build up bodies. Symptoms of the disorder happen mainly in infants, which include failure to thrive, loss weight, enlarged liver and spleen, etc. Treatment with strict dietary therapy is effective in some cases. It is estimated that GSD IV affects 1 in 600,000 to 800,000 individuals worldwide.
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SMP0000555
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Glycogenosis, Type VI. Hers Disease
Glycogen storage disease type VI, also called GSDVI or Hers disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective liver glycogen phosphorylase. Liver glycogen phosphorylase catalyzes the conversion of glycogen into amylose which is substrate of 1,4-alpha-glucan-branching enzyme and glycogen debranching enzyme. The disorder may show as enlarged liver in infancy to early childhood. Treatment may not required for some individuals. Glycogen storage disease type VI has been reported in approximately 11 people at least.
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