Metabolic Disorder

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Metabolism is the process by which the body converts food and drink into energy. A metabolic disorder occurs when abnormal chemical reactions in the body disrupt this process. A metabolic disorder can also occur when some organs, such as your liver or pancreas, do not function properly or become diseased. What is metabolic disorder? A […] Read More

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Metabolic Disorder

Metabolism is the process by which the body converts food and drink into energy. A metabolic disorder occurs when abnormal chemical reactions in the body disrupt this process. A metabolic disorder can also occur when some organs, such as your liver or pancreas, do not function properly or become diseased. What is metabolic disorder? A metabolic disorder occurs when abnormal chemical reactions in the body alter the normal metabolic process.  Types of metabolic disorder There are several metabolic disorders, the major type is:
  • Diabetes is the most common metabolic disease.
  • DNA repair-deficiency disorders
  • Acid-base imbalance
  • Porphyrias
  • Proteostasis deficiencies
  • Glucose metabolism disorders
  • Hyperlactatemia
  • Metabolic skin diseases
  • Wasting syndrome
  • Iron metabolism disorders
  • Lipid metabolism disorders
  • Malabsorption syndromes
  • Metabolic syndrome X
  • Inborn error of metabolism
  • Mitochondrial diseases
  • Phosphorus metabolism disorders
  • Metabolic brain diseases
  • Disorders of calcium metabolism
  • Water-electrolyte imbalance
Risk factors Several factors increase the risk of developing metabolic disorders. They include:
  • Family history of genetic metabolic disorder
  • Certain chronic medical conditions, such as lung or kidney disease
  • HIV/AIDS
Complications  Metabolic disorders if left untreated can lead to serious complications and they can be life-threatening in some cases. Complications of metabolic disorders include:
  • Organ failure or dysfunction
  • Seizures and tremors
  • Unconsciousness and coma
Diagnosis Inherited metabolic disorders are present at birth, and some are detected by routine screening. If an inherited metabolic disorder is not detected at birth, it is often not diagnosed until symptoms appear. Once symptoms develop, specific blood or DNA tests are available to diagnose most genetic metabolic disorders. Treatments The treatment approach for metabolic disorders depends on the specific disorder. Limited treatments are available for inherited metabolic disorders.  Inherited metabolic disorders are often treated with nutritional counseling and support, periodic assessment, physical therapy, and other supportive care options Treatment may include such measures as:
  • Special diets that eliminate certain nutrients
  • Taking enzyme replacements, or other supplements that support metabolism
  • Treating the blood with chemicals to detoxify dangerous metabolic by-products
There are several treatment options for inherited metabolic disorders. Some examples are:
    • Bone marrow transplantation
    • Vitamin supplementation
    • Medications to reduce symptoms, such as pain or low blood sugar
    • Surgery to relieve pain or symptoms
    • Mineral supplementation
    • Enzyme replacement therapy in selected patients
    • Gene therapy in selected patients
    • Nutritional counseling
    • Physical therapy.

Symptoms

Signs & Symptoms

The symptoms of genetic metabolic disorders vary widely depending on the type of metabolic disorder present. The symptoms may come on suddenly or progress slowly. The symptoms can vary in intensity among individuals, In many conditions, symptoms appear within a few weeks after birth other inherited metabolic disorders may take years for symptoms to develop.

Some symptoms of inherited metabolic disorders include:

  • Poor appetite
  • Difficulty with memory, thinking, talking, comprehension, writing or reading
  • Abdominal pain
  • Paralysis
  • Frequent infections
  • Hypoglycemia (low blood sugar)
  • Loss of vision or changes in vision
  • Vomiting
  • Weight loss
  • Developmental delay
  • Seizures
  • Coma
  • Body fluids that have a maple smell
  • Muscle weakness 

Symptoms of metabolic disorders that you can acquire during your lifetime as a result of genetics,  deficiency in a certain hormone or enzyme, consuming too much of certain foods, or several other factors include:

  • Fatigue
  • Headache
  • Muscle cramping
  • Nausea with or without vomiting
  • Irritability 
  • Rapid breathing or shortness of breath
  • Chronic or persistent diarrhea

Causes

Causes of metabolic disorder

Metabolic disorders are typically hereditary, although metabolic disorders can also occur when the liver or pancreas do not function properly. These kinds of disorders can be a result of genetics,  deficiency in a certain hormone or enzyme, consuming too much of certain foods, or several other factors. Also, other disorders, including endocrine diseases and malnutrition affect cellular metabolism and cause metabolic disorders.

Other examples of conditions that can cause metabolic disorders to include:

  • Kidney failure
  • Diabetes 
  • Diuretic abuse
  • respiratory failure
  • Gout 
  • Sepsis
  • Alcohol abuse
  • Ingestion of poison or toxins
  • Pneumonia 

FAQ

What is metabolic disorder?

Metabolic disorders occur when the processes by which the body converts food to energy are disrupted.

What are the causes of metabolic disorders?

Metabolic disorders can be inherited or acquired. Examples of conditions that can cause metabolic disorders to include:

  • Kidney failure
  • Diabetes 
  • Alcohol abuse

What are the potential complications of metabolic disorders?

Complications of metabolic disorders include:

  • Organ failure or dysfunction
  • Seizures and tremors
  • Unconsciousness and coma

How are metabolic disorders treated?

Treatment options for metabolic disorders include:

  • Bone marrow transplantation
  • Mineral supplementation
  • Vitamin supplementation
  • Nutritional counseling
  • Physical therapy

What are the risk factors for metabolic disorders?

Some of the factors that increase the chances of developing metabolic disorders are:

  • Certain chronic medical conditions, such as lung or kidney disease
  • Family history of genetic metabolic disorder
  • HIV/AIDS