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Von Gierke disease: Glycogen storage disease type I (GSD I)

Overview:
Von Gierke disease (Type I glycogen storage disease (GSD I)) is a condition in which the body can’t break down glycogen which is a storage form of sugar (glucose) ,
stored in the liver and muscles. When body needs energy, It is normally broken down into glucose .
Causes
Von Gierke disease occurs due to deficiency of the enzyme (glucose 6-phophatase) that breaks down glycogen into glucose . which leads to accumulation of glycogen and low blood sugar .
It’s inherited, that means it’s passed down through generations . In the case of parents carry a nonworking copy of the gene which related to this condition, the chance of developing of this diseases in children 25% (1 in 4) chance .
Symptoms:
symptoms of this condition appear at the age of 3 or 4 months, which lead babies to start to sleep through the night and can’t eat frequently as newborns.
Symptoms appears in infants:
- Hypoglycemia: babies with that disease have Low blood sugar.
- Lactic acidosis: Due to deficiency of glucose, the body breaks down ketons bodies to generate energy instead of glucose, which leads to increase of lactic acid in the body .
- Hyperuricemia: that disease leads to increase waste product (uric acid).
- Hyperlipidemia :increase the amounts of fats in the blood.
Other symptoms after older  
- Patients with GSDI have thin arms and legs and short stature.
- liver enlarges in size which appears as a protruding abdomen.
- The kidneys may also be enlarged.
- Patients also may have diarrhea and high level of cholesterol in the skin (xanthomas).
- Affected people may experience delayed puberty.
- Osteoporosis: Patients with GSDI may have thinning of the bones .
- Gout: May also suffer from gout which is form of arthritis resulting from accumulation of uric acid in the joints.
- Kidney disease.
- High blood (hypertension): increase blood pressure in the blood vessels.
- Polycystic ovaries: females which suffer from that disease may have abnormal development of the ovaries.
- Adenomas: teens and adults may have tumors called adenomas which may form in the liver.

Treatment

Von Gierke disease is inherited disease. So we can treat some symptoms of it as hypertension , eat frequently during the day especially foods containing carbohydrates (starches). elders may take cornstarch by mouth
Feeding tube is placed In some children through the nose into the stomach to provide sugars or uncooked cornstarch throughout the night. This tube can only use at bedtime and taken out each morning.
Allopurinol can lower blood uric acid and treat gout.
Other medications may be used for kidney disease, high lipids, and to increase numbers the cells that fight infection.
Infected people cannot properly break down fruit or milk sugar. It is best to avoid these products.

Prevention

There is no simple way to prevent Von Gierke disease.
Couples who wish to have a baby may seek genetic counseling and testing to know their risk for having a infected baby with Von Gierke disease.

Diagnosis:

Von Gierke disease: Glycogen storage disease type I (GSD I) Reviewed by Tpdsm on September 20, 2017 Rating: 5

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