Metabolic Disorder

Overview

Metabolism refers to the conversion of food and drink into energy in the body. When abnormal chemical reactions occur in the body, disrupting this process, it is called a metabolic disorder. A metabolic disorder can also occur when some organs, such as the liver or pancreas, do not function properly or become diseased. 

What is a metabolic disorder? 

Metabolic disorder is when abnormal chemical reactions occur in the body.

What are the types of metabolic disorders?

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
• Hyperlactemia
• 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

Causes

Metabolic disorders are typically hereditary, although metabolic disorders can also occur when the liver or pancreas does not function properly. These disorders can result from 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.

Some examples of conditions that can lead to metabolic disorders include:

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

What are the risk factors associated with metabolic disorders?

Several factors increase the risk of developing metabolic disorders. They include:

• Family history of genetic metabolic disorder
• Some chronic medical conditions, such as kidney or lung disease, can be a problem.
• HIV/AIDS

Symptoms

The symptoms of genetic metabolic disorders vary widely depending on the type of metabolic disorder present. Symptoms may appear suddenly or progress slowly. The symptoms can vary in intensity among individuals. In many conditions, symptoms appear within a few weeks after birth. Some other inherited metabolic disorders may start exhibiting symptoms after several years. 

Some symptoms of inherited metabolic disorders include:

• Poor appetite
• Difficulty remembering, comprehending, talking, comprehension, writing, thinking, 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 can be acquired during the 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

Diagnosis 

Inherited metabolic disorders are present at birth; some are detected by routine screening. An inherited metabolic disorder probably may not be detected at birth. Symptoms are often not recognized until they appear. Specific blood or DNA tests can be used to diagnose most genetic metabolic conditions once symptoms have developed. 

What are the treatments for metabolic disorders? 

The specific metabolic disorder will determine the treatment plan. 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 measures such as:

• Special diets that eliminate certain nutrients
• Supplements that support metabolisms, such as enzyme replacements and other supplements
• To detoxify toxic metabolic by-products, we need to treat the blood with chemicals

There are several treatment options for inherited metabolic disorders. Some examples are:

• Bone marrow transplantation
• Vitamin supplementation
• Low blood sugar or pain medication.
• Surgery to relieve pain or symptoms
• Mineral supplementation
• Enzyme replacement therapy in selected patients
• Gene therapy in selected patients
• Nutritional counseling
• Physical therapy.

What are the complications of metabolic disorders?

If left untreated, metabolic disorders can lead to severe complications and be life-threatening in some cases. Complications of metabolic disorders include:

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

FAQ