Glycogen storage disease and other inherited disorders of carbohydrate metabolism. Goldman's Greek yogurt parfaits medicine Gljcogen ed. Human granulocyte colony stimulating G,ycogen GCSF Glyccogen Glycogen storage disease used to treat recurrent infections Gltcogen GSD type Glycogen storage disease patients. Classification of GSDs Glycogen storage disease hepatic and muscle types with separate classification of PhK deficiency type IX. Hereditary Fructose intolerance HFI is an autosomal recessive genetic condition that causes an inability to digest fructose fruit sugar or its precursors sugar, sorbitol and brown sugar. A mild clinical phenotype with myopathic and hemolytic forms of phosphoglycerate kinase deficiency PGK Osaka : a case report and literature review. The molecular genetic basis of muscle phosphoglycerate mutase PGAM deficiency.

Glycogen storage disease -

Clinical symptoms The basic clinical symptoms common for every type of hepatic GSD are hypoglycemia and hepatomegaly [ 24 ]. Glycogen pathway Decomposition of glycogen molecules is directly related to energy production, and its regulation takes place by activation of the relevant substances and enzymes.

Figure 2 Enzymatic activity of phosphorylase and synthase. Release of glucosephosphate-kinase phosphorylase PhK. Conversion of glucosephosphate to glucosephosphate — phosphoglucomutase. Glucosephosphate metabolism — glucose 6-phosphatasephosphatase 1 G6PC.

The PhK enzyme consists of 4 subunits: α, β, γ, and δ subunits, which are encoded by the following genes: PHKA1 and PHKA2 α1 and α2 subunits expressed in the liver; PHKB subunit β , PHKG1 and PHKG2 subunit γ expressed in the liver [ 34 , 35 ], CALM1, CALM2 and CALM3 subunit δ [ 32 ].

GSD type I Unlike muscles, liver contains the glucosephosphatase membrane enzyme, which removes the phosphate residue to allow the glucose to enter the bloodstream and regulates its concentration [ 52 ].

Dietary management The basic treatment for GSDs is dietary management, which raises many controversies. Table III Summary of different dietary strategies in ketotic and non-ketotic type I GSDs.

CS every 3—4 h during the day plus extra dose at night. Usually only 1 dose of CS at night High-protein diet. Gene therapy Currently, in the USA, the development of adeno-associated virus AAV vector-mediated gene therapy is being carried out for GSD type I based on the success of early-stage clinical trials of gene therapy in hemophilia [ 67 ].

Conclusions The GSD is a congenital defect of carbohydrate metabolism characterized by hypoglycemia, hepatomegaly, and growth disorders short stature. Conflict of interest The authors declare no conflict of interest. Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease — causing mutations Nat Commun.

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Reduction of this enzyme's function impairs glycogen breakdown. As a result, glycogen accumulates in and damages cells, and glucose is not available for energy. Glycogen accumulation in the liver leads to hepatomegaly, and the liver's inability to break down glycogen for glucose contributes to hypoglycemia and ketosis.

Reduced energy production in muscle cells leads to muscle weakness, pain, and cramping. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes.

In males who have only one X chromosome , one altered copy of the gene in each cell is sufficient to cause the condition. In females who have two X chromosomes , a mutation would have to occur in both copies of the gene to cause the disorder. However, some women with one altered copy of the PHKA2 gene have signs and symptoms of GSD IX, such as mild hepatomegaly or short stature in childhood.

These features are usually mild but can be more severe in rare cases. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

When the condition is caused by mutations in the PHKB or PHKG2 gene, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Glycogen storage disease type IX. Description Glycogen storage disease type IX also known as GSD IX is a condition caused by the inability to break down a complex sugar called glycogen.

Frequency GSD IX that affects the liver is estimated to occur in 1 in , people. Causes Mutations in the PHKA1 , PHKA2 , PHKB , or PHKG2 genes are known to cause GSD IX. Learn more about the genes associated with Glycogen storage disease type IX PHKA1 PHKA2 PHKB PHKG2.

Inheritance GSD IX can have different inheritance patterns depending on the genetic cause of the condition. Other Names for This Condition GSD IX GSDIX PhK deficiency Phosphorylase b kinase deficiency Phosphorylase kinase deficiency. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD.

Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 GLYCOGEN STORAGE DISEASE IXb; GSD9B GLYCOGEN STORAGE DISEASE IXd; GSD9D GLYCOGEN STORAGE DISEASE IXc; GSD9C.

Scientific Articles on PubMed PubMed. References Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab.

doi: These tests may include:. Glycogen storage disease treatment will depend on the type of disease and the symptoms. The following general treatment guidelines apply to people who have glycogen storage diseases that affect the liver, or types I, III, IV, and VI.

Your child's doctor will develop a treatment regimen based on your child's specific symptoms. This next group of glycogen storage disease treatment guidelines applies to people who have glycogen storage diseases that affect the muscles, or types V and VII.

This is done by:. There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it. If you have a glycogen storage disease or a family history of the disorder, you can talk to a genetic counselor when deciding to have children.

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Glycogen storage disease storage diseases GSDs are a group of inherited genetic disorders that cause glycogen diaease be improperly sforage in the sisease. Children burn belly fat glycogen Glycogen storage disease diseases have a Disase of abnormal amounts or types of glycogen in their tissues. Glycogen is the storage form of glucose in our bodies. Glucose is a simple sugar, which is a form of carbohydrate. It is found in many foods and is the main source of energy in our bodies. The main types of glycogen storage diseases in children are categorized by number and name. They include:.