Why do you need to test for metabolic genetic disorders

Why do you need to test for metabolic genetic disorders

METABOLIC GENETIC DISORDER Disease or disorder that disturb the normal metabolism of the body is referred to as metabolic disorder. Normally, food is broken down by the body into simpler components (proteins, fats and sugars) in a highly regulated manner. Metabolic genetic disorders are deďŹ ned by a breakdown in any one of the steps of this complex process.

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CAUSES OF METABOLIC DISORDERS Metabolic genetic disorders develop when normal metabolic processes are disturbed. Disorders in metabolism can be inherited, in which case they are known as inborn errors of metabolism, or they may be acquired. They may also occur as complications of other serious diseases, such as liver or respiratory failure, cancer, end-stage chronic obstructive pulmonary disease (COPD, includes emphysema and chronic bronchitis), and HIV/AIDS. 4

COMMON METABOLIC GENETIC DISORDERS Familial hypercholesterolemia.

Gaucher disease.

Hunter syndrome.

Krabbe disease.

Maple syrup urine disease.

Metachromatic leukodystrophy.

Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) ● Niemann-Pick. ● ● ● ● ● ● ●

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TREATMENT FOR METABOLIC GENETIC DISORDERS Treatment for metabolic genetic disorders begins with seeking medical care from health care provider. The treatment approach for metabolic disorders depends on the specific disorder. •

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Inborn errors of metabolism (inherited metabolic disorders) are often treated with nutritional counseling and support, periodic assessment, physical therapy, and other supportive care options.

Acquired metabolic disorder treatment will include normalizing the metabolic balance by both reversing the cause and administering medications.

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DIFFERENT TREATMENT PROCEDURES ● ● ● ● ● ● ● ● ●

Bone marrow transplantation Enzyme replacement therapy Gene therapy in selected patients Medications to reduce symptoms, Mineral supplementation Nutritional counseling Physical therapy Surgery to relieve pain or symptoms Vitamin supplementation 7

RISK FACTORS Complications of untreated metabolic genetic disorders can be serious, even life threatening in some cases. One can help to minimize the risk of serious complications by following a proper treatment plan. Complications of metabolic genetic disorders include: ● Organ failure or dysfunction ● Seizures and tremors ● Unconsciousness and coma

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“ Metabolic genetic test could help in

taking eective medication and follow healthy diet, that could control the symptoms of metabolic genetic disorders.

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Thank you ..

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