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Disorders of Carbohydrate Metabolism

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alisha m

on 17 December 2013

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Transcript of Disorders of Carbohydrate Metabolism

Diagnosis & Treatment
The disease was named after Edgar von Gierke, the German doctor who discovered it.
Causes of Inherited Metabolic Disorders
In most inherited metabolic disorders, a single enzyme is either not produced by the body at all, or is produced and it doesn't work. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced.
Some of these diseases cause few symptoms. Others are fatal. The specific symptoms, age at which symptoms start, and their severity vary considerably among these diseases. For types II, V, and VII, the main symptom is usually weakness. For types I, III, and VI, symptoms are low levels of sugar in the blood and protrusion of the abdomen
Disorders of Carbohydrates Metabolism
what is it ?
Disorders of carbohydrate metabolism occur in many forms.Carbohydrate metabolism refers to the process in which bodies goes through to break down carbohydrates into energy. Eating too much carbohydrates can cause an increase in your body’s fat storage. But, eating too little can have drastic health consequences.
Caused by a genetic enzyme defect. It is inherited from both parents. Normally, enzymes help convert glucose into glycogen for storage. Other enzymes convert the glycogen back to glucose when energy is needed. This happens during activity like exercise. With GSD, some of these enzymes are defective, deficient, or absent.
Graphical network of the top 20 diseases related to carbohydrate metabolic disorder:
Glycogen storage disease is diagnosed by examining a piece of muscle or liver tissue under a microscope.
Treatment depends on the type of glycogen storage disease. For most types, eating many small carbohydrate-rich meals every day helps prevent blood sugar levels from dropping
Glycogen Storage Diseases
Glycogen Storage Diseases
Biology 12, Alisha Mall, Block 1-3
Glycogen storage disease
Glycogen Storage Diseases
most common of the glycogen storage diseases
genetic disease results from deficiency of the enzyme glucose-6-phosphatase
Slowed growth Heat intolerance

Easy bruising Hypoglycemia

Enlarged liver Poor muscle tone

other Symptoms
Who does it affect ?

It go through the family, your parents pass them on to you. Most GSDs are automatic recessive traits. This means that both of your parents must have the abnormal gene for the disease to affect you.
No known prevention method.If you're concerned that you and your partner may carry the gene mutations for these disorders, genetic counseling before pregnancy.
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