Drop files infannts or Select files. When the body storrage more energy, certain proteins Glycoen enzymes break down glycogen into glucose. These mutations result in enzyme deficiencies that block glycogen breakdown in affected organs causing excess amounts of glycogen and fat accumulation in the body tissues and low levels of circulating glucose in the blood.

Glycogen storage disease in infants -

Many affected individuals also have inflammation of the intestinal walls inflammatory bowel disease. People with GSDIb may have oral problems including cavities, inflammation of the gums gingivitis , chronic gum periodontal disease, abnormal tooth development, and open sores ulcers in the mouth.

The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa. The overall incidence of GSDI is 1 in , individuals. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases. Mutations in two genes, G6PC and SLC37A4 , cause GSDI.

G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body.

Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic.

This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.

This condition 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 I. Description Glycogen storage disease type I also known as GSDI or von Gierke disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.

Frequency The overall incidence of GSDI is 1 in , individuals. Causes Mutations in two genes, G6PC and SLC37A4 , cause GSDI. Learn more about the genes associated with Glycogen storage disease type I G6PC SLC37A4.

Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

Other Names for This Condition Glucosephosphate deficiency Glucosephosphate transport defect GSD I GSD type I Hepatorenal form of glycogen storage disease Hepatorenal glycogenosis Von Gierke disease Von Gierke's disease. Genetic and Rare Diseases Information Center Glycogen storage disease type 1A Glycogen storage disease type 1B.

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 Ia; GSD1A GLYCOGEN STORAGE DISEASE Ib; GSD1B.

Scientific Articles on PubMed PubMed. References Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Glycogen Storage Disease Type I. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.

GeneReviews R [Internet]. Seattle WA : University of Washington, Seattle; Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol. doi: Infants with Type IV GSD IV may not have low blood sugar, but they can develop early complications. Children who survive with GSD IV are at risk for the following complications:.

GSD is an inherited disease. Children are born with GSD when both parents have an abnormal gene that gets passed on to one of their children. Children with GSD lack one of the enzymes responsible for making glycogen or converting glycogen to glucose.

As a result, their muscles do not receive the fuel they need to grow and glycogen builds up in their liver and other organs. Diagnosis starts with a health history. The doctor will also do a physical exam and check for signs of an enlarged liver or weak muscles. The doctor may order blood tests and possibly a liver or muscle biopsy so that samples can be tested for enzyme levels to help determine if a child has GSD.

There is currently no cure for GSD. After diagnosis, children with GSD are usually cared for by several specialists, including specialists in endocrinology and metabolism.

Specific dietitians with expertise in this disease should be involved. Depending on what type of GSD your child has, treatment typically focuses on promoting their growth and development and maintaining a healthy level of glucose in the blood. Typically, doctors recommend small, frequent meals throughout the day.

The meals should be low in sugar to prevent glycogen from building up in the liver. Uncooked cornstarch can help maintain a healthy blood-sugar level. In some cases, doctors may recommend a nasogastric tube or gastrostomy G tube that delivers a continuous supply of nutrition while the child is sleeping.

Children with GSD IV may need a liver transplant if the disease progresses to cirrhosis or liver failure. The Glycogen Storage Diseases Program treats children and adults with known glycogen storage diseases. Learn more about Glycogen Storage Diseases Program. The Division of Gastroenterology, Hepatology and Nutrition offers care for children with GI, liver, and nutritional problems.

Learn more about Gastroenterology, Hepatology and Nutrition. Breadcrumb Home Conditions Glycogen Storage Disease. What is glycogen storage disease? What are the types of GSD?

The most common types of GSD include: Glycogen storage disease type I GSD I , also known as von Gierke disease, accounts for about 25 percent of all children with GSD. What are the risks of GSD? Each type of GSD carries specific risks. Other risks include: gout, a type of arthritis adenomas, tumors of the liver that are usually benign non-cancerous inflammatory bowel disease type 1b dental problems recurring infections type 1b pulmonary hypertension Infants with type III GSD III may have low blood sugar and excess fat in their blood.

Children with this type of GSD are also at risk for: slow growth and short stature muscle weakness Infants with Type IV GSD IV may not have low blood sugar, but they can develop early complications.

Children who survive with GSD IV are at risk for the following complications: slow weight gain muscle weakness, including a weak heart muscle cirrhosis portal hypertension. What are the symptoms of glycogen storage disease?

Symptoms of GSD typically appear early, when a child is still a baby or very young child.

Skip EGCG and drug interactions content. What is glycogen storage disease GSD? Ijfants storage disease GSD is Glycogn rare metabolic Glycogen storage disease in infants where the body is not ih to properly store or ln down glycogen, a form of stofage or glucose. GSD affects the liver, muscles and other areas of the body, depending on the specific type. The food we eat is broken down into different nutrient components, including glucose. The excess glucose that is not needed right away is stored as glycogen in the liver and muscle cells to use later. When the body needs more energy, enzymes break down glycogen into glucose, a process called glycogen metabolism or glycogenolysis. Last on December disezse, Years published:Glycogen storage disease in infants,, NORD gratefully acknowledges Deeksha Bali, PhD, Professor, Division ifnants Medical genetics, Department of Pediatrics, Sisease Health; Co-Director, Biochemical Astaxanthin and macular degeneration Laboratories, Duke University Health System, and Yuan-Tsong Chen, Glycogen storage disease in infants, PhD, Professor, DKA management of Idsease Genetics, Department Glycogen storage disease in infants Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Intants, Taiwan for Healthy aging and dietary support in the preparation of this report. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I GSDI is characterized by accumulation of excessive glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities mutations in the G6PC gene GSDIA or SLC37A4 gene GSDIB. These mutations result in enzyme deficiencies that block glycogen breakdown in affected organs causing excess amounts of glycogen and fat accumulation in the body tissues and low levels of circulating glucose in the blood.