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Glycogen Storage Disease Type 1

Brandy Bray

on 26 April 2010

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Transcript of B's GSD

GSD 1: Glycogen Storage Disease Type 1
"von Gierkes disease" Two differenct subtypes Ia and Ib

*Ia-a deficiency of the glucose-6-phophatase (G6Pase) enzyme in the liver, kidney and other orangs of the body

*Ib-a deficiency in glucose-6-phosphate translocase (transporter enzyme G6PT) Inherited autosomal-recessive metabolic disease. There are about 11 known types of GSD
They are classified by a number, the name of the defective enzym, or by the name of the doctor who first described the condition. All types of GSD cause the body to either not make enough glucose or not be able to use glucose a energy. Type 1 is the most frequent and accounts for about 25% of all GSD cases diagnosed in USA and Europe it also has an estimated inidence of about 1 in 100,000 live births We eat, our body stores glucose as glycogen, we need energy, we convert glycogen back to glucose and withdraw it from the liver and muscles. GDP 1 does not allow our bodies to release glucose from the liver and muscles as glucose. Glycogen will build up in the liver causing hepatomegaly(swelling of the liver) This will also cause a negative feedback loop As glucose levels in the blood stream fall the pancrease will release insulin to stimulate glycogen formation. Problem-glucose can't be release from the liver or the muscles. Lactic acid produced by glycolysis in muscles can be converted in the liver to glucose. Problem-G6P blocks the final steps of glycogenoysis and gluconeogenesis. The use of non-carbohydrate sources to for glucose is gluconeogenesis. Non-carbohydrates that are used; tryglycerides, lactic acid, and certain amino acids. Problem-if G6P blocks this process these non-carbohydrates are going to build up. Biochemical assay for enzyme activity is the method of definitive diagnosis. Ultrasonography to determine size of liver and kidneys-both often increase in size with this disease. Glucagon administration will show an increase of plamsa lactic acid levels. Oral galactose will also increase plasma lactic acid levels. Symptoms
overwhelming hunger
poor growth
abdominal girth with this extremities

severe hypoglycemia
cerebral edema
hepatic adenoma
glomerular hyperfiltration
brain damage
severe anemia
growth faliure

Proper treatment should result in a reasonable life span. Treaments:

nasgastric tube feeding

raw cornstarch feedings

prompt attention to skin infections

ultrasonography annually to evaluate hepatic adenomas (benign liver tumor)

proper diet

no contact sports

Ia requires PO iron for intercurrent infections

Ib requires PO iron and GCSF a granulocyte colony stimulating factor which is critcal for reduce serious infections
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