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Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

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80 pages55 minutes

Summary

This book describes Von Gierke Disease, Diagnosis and Treatment and Related Diseases
Glucose-6-phosphatase deficiency (G-6-P Deficiency) is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency (G6PD Deficiency).

Von Gierke disease is a disorder in which the body cannot break down glycogen.
Glycogen is a storage form of sugar (glucose) that is amassed in the liver and muscles.
It is normally broken down into glucose to give the patient more energy when the patient needs it.
Von Gierke disease is also termed the Type I glycogen storage disease (GSD I).
Von Gierke's disease signifies the largest cluster of glycogen storage disorders (GSDs).
There is an enzyme defect in glucose-6-phosphatase so that glucose-6-phosphate cannot be converted into free glucose but is metabolized to lactic acid or integrated into glycogen.
The liver and kidneys are affected and hypoglycemia is a major feature.
Large quantities of glycogen are formed and stored in liver cells, renal and intestinal mucosa cells.
The liver and kidneys become swollen.
Abnormalities of lipids may cause xanthoma (yellow nodule on the skin, caused by deposition of lipids) formation.
Uric acid is often raised and may cause medical gout.
Galactose, fructose and glycerol are metabolized to lactate.
The raised blood lactate levels cause metabolic acidosis.
Type Ia has glucose-6-phosphatase deficiency in the liver and type Ib has normal activity.
Causes:
Von Gierke disease is inherited as an autosomal recessive disorder.
Von Gierke disease happens when the body lacks the protein (enzyme) that breaks down glycogen into glucose.
This produces abnormal quantities of glycogen to accumulate in certain tissues.
When glycogen is not broken down suitably, it results in low blood sugar.
Von Gierke disease is inherited, which indicates it is passed down through families.
If both parents have a nonworking copy of the gene linked to this disorder, each of their children has a 25% (1 in 4) chance of forming the disease.
Symptoms
1.Constant hunger
2.Easy bruising and nosebleeds
3.Fatigue
4.Irritability
5.Puffy cheeks, thin chest and limbs, and swollen belly
The manifestation is normally soon after birth.
Shortly after birth, hypoglycemia and lactic acidosis often produce convulsions.
More moderate hypoglycemia can produce:
1.Irritability,
2.Pallor,
3.Cyanosis,
4.Hypotonia,
5.Tremors,
6.Loss of consciousness, and
7.Apnea.
In the first weeks of life the liver is normal in size but it expands to produce marked abdominal distension.
Growth is retarded and height is normally below the third percentile.
Mental development is normal.
Diagnosis
The doctor will do a physical examination showing:
1.Delayed puberty
2.Enlarged liver
3.Gout
4.Inflammatory bowel disease
5.Liver tumors
6.Severe low blood sugar
7.Stunted growth or failure to grow
Children with this disorder are normally diagnosed before age 1.
Blood glucose and pH are normally low with raised lactate, uric acid, triglyceride and cholesterol.
Renal function tests: the blood creatinine and urea may be raised.
FBC: anemia
Diagnosis is made by:
1.Biopsy of liver or kidney
2.Genetic testing
Treatment
The purpose of treatment is to prevent low blood sugar.
The patient should eat often during the day, especially carbohydrates.
Older children and adults may take corn-starch by mouth to raise their carbohydrate intake.
In some children, a feeding tube is inserted through their nose into the stomach to give sugars or cornstarch throughout the night.
The doctor may also give medicines to treat kidney disease, high lipids, gout.
Nasogastric tube feeding is needed continually by all infants.

TABLE OF CONTENT
Introduction
Chapter 1 Von Gierke

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