Affected individuals may also have diarrhea and deposits of cholesterol in the skin xanthomas. People with GSDI may experience delayed puberty.
Beginning in young to mid-adulthood, affected individuals may have thinning of the bones osteoporosis , a form of arthritis resulting from uric acid crystals in the joints gout , kidney disease, and high blood pressure in the blood vessels that supply the lungs pulmonary hypertension.
Females with this condition may also have abnormal development of the ovaries polycystic ovaries. In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous benign , but occasionally these tumors can become cancerous malignant.
Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. Many people with GSDIb have a shortage of white blood cells neutropenia , which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. 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 overall incidence of GSDI is 1 in , individuals. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. 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. Genetics Home Reference has merged with MedlinePlus.
Learn more. 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.
Type Ia has deficient glucosephosphatase in the liver and type Ib has normal activity. The abnormality has been located on gene map locus 17q21 for type Ia and 11q23 for type Ib. Type Ic has been mapped to 11qq Orphanet J Rare Dis.
J Perinat Neonatal Nurs. Acta Gastroenterol Belg. Epub Jun J Hepatol. JIMD Rep. In Feb i got muscle twifches a blood test in april came Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Egton Medical Information Systems Limited has used all reasonable care in compiling the information but make no warranty as to its accuracy.
Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions. This article is for Medical Professionals. Synonyms: von Gierke's syndrome, glycogen storage disorder type I Von Gierke's disease described by von Gierke in represents the largest group of glycogen storage disorders GSDs. The liver and kidneys are involved and hypoglycaemia is a major feature.
Large quantities of glycogen are formed and stored in hepatocytes, renal and intestinal mucosa cells. The liver and kidneys become enlarged. Abnormalities of lipids may lead to xanthoma formation.
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