Introduction
Inherited metabolic diseases are genetic conditions that are inherited and cause metabolism problems. They are also known as inborn errors of metabolism. Metabolism are all the chemical reactions that convert or use energy in the body through breaking down the proteins, carbohydrates and fats, breaking down chemicals in to other substances and transporting them to the cells and transforming excess nitrogen to waste products that are excreted through urine. Most people with inherited metabolic diseases have a defective gene that results in enzyme deficiency. There are many types of inherited metabolic diseases that have been discovered and identified. Examples are hurler syndrome, niemann pick disease, tay sachs disease, fabry disease, krabbe disease and gaucher disease.
Symptoms of inherited metabolic diseases
The symptoms of metabolic diseases vary depending on the metabolism problem that is present. The following are the most common symptoms of inherited metabolic diseases.
- Poor appetite
- Abdominal pain
- Vomiting
- Weight loss
- Seizures
- Brain damage
- Physical disabilities
- Abnormal odour of urine, sweat, breath and saliva
- Lethargy
Some of these symptoms come suddenly and progress slowly. The symptoms may be triggered by minor illnesses, dehydration, some medications or the type of foods consumed.
Causes of inherited metabolic diseases
In most metabolic diseases, a single enzyme is either not produced at all or is produced and is not working at all. Depending on the missing enzyme, toxic chemical may build in the body or essential products needed in the body may not be produced. People with inherited metabolic diseases inherit two defective genes one from each parent meaning that the both parents are carriers of the bad gene but their one bad gene is compensated by the normal gene. Since production of enzymes is contained by a pair of genes, the child with two defective genes fails to produce enough effective enzymes and thus develops inherited metabolic diseases. Therefore, the inherited metabolic diseases are caused by gene mutation that occurred many years back to the generations that lived then.
Diagnosis and treatment
Diagnosis:
Inherited metabolic diseases are usually present at birth and can be detected by screening. If the disorder is not detected at birth through screening, then it is diagnosed when the symptoms start to appear. When the symptoms start to appear, a specific blood and DNA test is conducted to diagnose the type of inherited metabolic disorder present.
Treatment:
The genetic defects that cause the inherited metabolic diseases cannot be corrected with the technology available currently. The available treatments try to work around the present metabolism problem. These treatment include;
- Taking special diets that reduce and eliminate certain nutrients.
- Taking of enzyme replacements and supplements that support metabolism.
- Detoxifying the dangerous metabolic by products that are present in the blood by use of relevant chemicals.
These treatments should be accompanied by a few general principles that include the following;
- Totally eliminating the use of certain drugs and foods that do not metabolise properly.
- Replacing the missing or inactive enzyme to restore metabolism.
- Regular removal of toxic products that accumulate as a result of the metabolic disorder.
Treatment of people suffering from inherited metabolic disorder focuses on improving the functioning of the organs.
It is important to take the patients to specialised centres as this may increase the chances of correct diagnosis and appropriate help.
