INFORMATION ON METABOLIC DISORDERS

Metabolism is carried out by chemical substances called enzymes, which are made by the body. If a genetic abnormality affects the function of an enzyme or causes it to be deficient or missing altogether, various disorders can occur. The disorders usually result from an inability to break down some substance that should be broken down so that some intermediate substance that is toxic builds up or from an inability to produce some essential substance.

SYNONYMS OF METABOLIC DISORDERS

Synonyms and other related keywords:-

1. Inherited neurodegenerative disorders
2. Inherited metabolic disorders
3. Inborn errors of metabolism
4. Genetic metabolic disease
5. Biochemical genetic disorders
6. Phosphorylase deficiency
7. Porphyrias
8. Inherited disorders of the nervous system

CAUSES OF METABOLIC DISORDERS

Metabolic Disorders is caused by defects in the enzymes that control chemical reactions used to break down food. Enzyme defects are caused by flaws in the genes that govern production of the enzymes. Metabolic Disorders is caused by lack of a small, naturally occurring molecule that's not an enzyme but is involved in metabolism. Dementia associated with metabolic disorders may cause reversible or irreversible confusion and changes in intellect or reasoning

SYMPTOMS OF METABOLIC DISORDERS

Main symptoms are:-

1. Slowly progressive loss of memory, judgment, or intellectual function
2. Language difficulties
3. Personality changes
4. Decrease of movement, sensation,
5. Speech, hearing, vision, or other brain functions
6. Disorientation to person, place, or time
7. Loss of bladder control

DIAGNOSIS OF METABOLIC DISORDERS

Metabolic disorders are difficult to diagnose because there are thousands of them and symptoms can mimic more common diseases or conditions.

TREATMENT OF METABOLIC DISORDERS

Treatment focuses on the cause of the disorder and controlling symptoms. Treatment of the cause may include medicines, dietary supplements, or other measures. Progression of symptoms may require 24-hour monitoring and care in the home or in an institutionalized care setting. When severe anemia or hipoproteinemia exists, phlebotomy is contraindicated. In these cases, treatment with deferoxamine, although not as effective as phlebotomy, may relieve symptoms. Long-term care may include environmental safety and control of aggression or agitated behavior through behavior modification or medications.