You might be thinking yes, you are right, it is a very bad and complex disease but do not despair. It affects the liver and has a significant effect on the blood glucose level. Glycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat. Type 1 glycogen storage disease gsd1 is an autosomal recessive disorder that was first described in 1929 by e.
Due to deficient glyco genolysis and gluconeogenesis, patients. They become unwell in early childhood with sweating, irritability, poor growth and muscle weakness. Handbook of genetic counselingvon gierkes disease glycogen storage disease type i from wikibooks, open books for an open world pdf. There is an enzyme defect in glucose6phosphatase so that glucose6phosphate cannot be converted into free glucose but is metabolised to lactic acid or incorporated into glycogen.
Diet is the mainstay of treatment and requires close monitoring and adjustment by a highly specialized nutritionist. S ince yon gierkes original report in 1929 on the syndrome that has since borne his name, there have been a number of reports, mostly in the foreign literature, concerning the condition of glycogen storage disease. Links to pubmed are also available for selected references. Increased malonyl coenzyme a production which compromises oxidation of longchain fatty acids via carnitine palmitoyltransferase cpt 1 inhibition plays a crucial role in the pathogenesis of these complications. Full text full text is available as a scanned copy of the original print version.
This causes excess glycogen to accumulate in muscles, liver. Accumulation of glycogen in liver and kidney leads to organomegaly. Get a printable copy pdf file of the complete article 1. Lysosomal storage diseases in less than 15 minutes. In neuromyelitis optica, the bodys immune system mistakenly attacks healthy cells and a substance called myelin in the spinal cord and eyes. Glycogen storage disease type i gsd i is an inherited disease that results in the liver being unable to properly break down stored glycogen. Glycogenlysosomal storage diseases flashcards quizlet. Summary of clinical presentation of glycogen storage. Diagnosis and management of glycogen storage disease type i. It is characterized by enlargement of the liver, low blood sugar values and acetonuria. Glycogen storage disease symptoms in pediatric patients depend on its type. Gsd i is divided into two main types, gsd ia and gsd ib, which differ in cause, presentation, and treatment.
Biochemical investigation of a case of glycogenstorage. Causes and risk factors of lumbar degenerative disc disease. It occurs in childhood and is occasionally familial. The gold standard for the diagnosis of glycogen storage disease type ia is still the enzyme assay necessitating fresh liver tissue. Glycogen is a form of sugar glucose that is stored in the liver and muscles. This impairment disrupts the livers ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysiological properties. Hypoketotic hypoglycaemia and hypertriglyceridaemia are biochemical hallmarks of glycogen storage disease gsd 1. With a few exceptions, most forms of gsd inhibit glycogen breakdown. Symptoms of specific types of glycogen storage diseases include. Death is frequent from intercurrent infections but patients may. Glycogen storage disorders are classified according to which enzyme is lacking or not working normally and also which part of the body is affected by the disease. An autosomal recessive disease in which gene expression of glucose6phosphatase is absent, resulting in hypoglycemia due to lack of glucose production.
The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. Pediatric glycogen storage disease childrens pittsburgh. Abnormal micromotion instability, when the outer rings of the disc. A practice guideline of the american college of medical genetics. The disease results from deficiency of an enzyme that releases glucose from glycogen. If untreated this results in prolonged periods when their blood sugar level is too low. Neuromyelitis optica is an autoimmune disease that affects the spinal cord and optic nerves nerves that carry visual messages to and from the brain. I will explain you in the next section how to make all this a bit more bearable. It is normally broken down into glucose to give you more energy when you need it. Hyperuricemia in glycogenstorage disease type 1 jama.
We diagnosed ten unrelated patients with glycogen storage disease based on clinical, biochemical and histopathology investigations. Glycogen storage disease is a metabolic disease that affects your ability to synthesize or break down and use glycogen the storage form of glucose more on this in the next section. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Mutation analysis was done by sequencing the g6pc gene.
Glycogen storage disease type i genetics home reference. The disease will cause the body to accumulate abnormal levels of glycogen within certain tissues. Article contents 1 glycogen storage diseases2 dietary sources of glucose. Alittle over 70 years later, two forms ofglycogen storage disease wererecognized. Severe fasting hypoglycemia, increased glycogen in. Current techniques of management of this condition which are likely to improve the outcome of general anaesthesia and surgery are discussed. The low back pain associated with lumbar degenerative disc disease is usually generated from one or both of following sources. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. Gsd type 1a cases account for 20 % of glycogenoses in our center. On fasting, subjects with type i glycogenosis had lower concentrations of. Four separate subtypes of gsd i have been identified, each caused by. Glycogen is a form of sugar glucose that is stored in the.
Encyclopedia of genetics, genomics, proteomics and informatics. In 1993, the gene encoding for the human phosphatase g6pase of the glucose6phosphatase system was isolated and consequently, mutations have been identified in glycogen storage disease type ia. The glycogen storage disorders american academy of. The following is a list of common glycogen storage disease symptoms. It is a disease that impairs the body from properly breaking down glycogen to glucose for energy.
Children with gsd1 are unable to release glucose from liver glycogen. Previous reports of anaesthesia in patients with this condition are limited, but indicate that. Basicconcept glycogen is a readily mobilised storageform of glucose. View homework help picmonicglycogenstoragediseases. Guidelines for management of glycogen storage disease type i.
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