What is Metabolism?

Metabolism is the chemical process by which the food we eat is transformed into energy which is needed to keep us going. The food consists of various food groups, such as carbohydrates, proteins, and fats which are broken down by our digestive enzymes and used as fuel for our body to function in daily life. This energy can be used immediately or gets stored in the liver, muscle tissues and body fat to be used later.

Metabolic Disorders

Now this brings us to the main question on which our whole section is built.

What Is Metabolic Disorder?

Failure of the metabolism process causes metabolic disorders, which results in either excessive or deficient vital substances/fuel which the body needs in order to stay healthy. So, you can see how a problem with our metabolism can disrupt our health and subsequently has a debilitating impact on our life.

Metabolic disorders can occur from various reasons, such as deficiency or absence of an enzyme/ vitamin, abnormal chemical reactions, dietary deficiencies, medical conditions of pancreas, liver, endocrine glands etc. which help with the body's metabolism.

In our METABOLIC DISORDERS INFORMATION CENTER, you can read about the various metabolic disorders which a person can have along with its causes, symptoms, investigations and treatment.

Given below are some snippets of the metabolic disorders which we have covered, such as Tyrosinemia, Gaucher's Disease, Lead Poisoning (Plumbism), Obesity and Type-1 diabetes. For a more detailed read on the above conditions, please refer to the side menu and click under our METABOLIC DISORDERS INFORMATION CENTER and increase your knowledge of yet one more medical problem affecting humans in today's world.


In this metabolic disorder, the body is unable to break down Tyrosine, an amino acid, resulting in increased amount of tyrosine in the blood which causes harm to the liver and kidneys. This is a congenital condition. There are 3 three forms of Tyrosinemia:

  • Type I Tyrosinemia
  • Type II Tyrosinemia
  • Type III Tyrosinemia

Tyrosinemia occurs in the absence of Fumarylacetoacetate Hydrolase enzyme. Symptoms depend on the phase of this condition and consist of Acute Phase which is characterized by decreased weight, hepatomegaly, splenomegaly, lower extremities swelling and liver failure. Chronic Phase is characterized by hepatomegaly/cirrhosis/liver failure/jaundice, splenomegaly, cardiomyopathy, seizures, tubulopathy/nephromegaly/fanconi syndrome/kidney failure, failure to thrive and ascites. Diagnosis can be confirmed with blood tests, ultrasound, CT scan and MRI. Treatment for Tyrosinemia consists of dietary changes, nitisinone treatment and liver transplant.

For more detailed information on causes, symptoms, investigations and treatment of Tyrosinemia, please read under our METABOLIC DISORDERS INFORMATION CENTER on the side menu.

Gauchers Disease

This is a rare and inherited genetic disorder characterized by formation of glucocerebroside, which is a fatty material, in the bones, liver, lungs and spleen resulting in improper functioning of the organs. Rarely, the brain can also get affected. The cause of Gaucher's disease is deficiency of the enzyme glucocerebrosidase. Treatment comprises of enzyme replacement and other therapies. There are 3 types of Gaucher's Disease:

  • Type 1 Gaucher's Disease.
  • Type 2 Gaucher's Disease.
  • Type 3 Gaucher's Disease.

Symptoms depend on the type of Gaucher's Disease and commonly consists of skeletal abnormalities, bone pain, enlarged spleen and liver, anemia, extreme tiredness, thrombocytopenia, delayed puberty, brain problems, rigidity, seizures, decreased muscle coordination and abnormal eye movements. As of now, there is no definite cure for Gaucher's Disease. Treatment mainly comprises of enzyme replacement therapy, bone marrow transplantation, and other medications.

For more information on this condition and its types, please refer to the side menu and read under our METABOLIC DISORDERS INFORMATION CENTER.


Obesity is a term used for being excessively overweight or having excess body weight. Obesity is a condition where a person is extremely overweight. It is nothing, but a metabolic disorder which causes excess body fat to deposit under the skin. The layer of subcutaneous body fat is termed as adipose tissue. Obesity is classified according to the BMI (basal metabolic index). The main cause of obesity is energy imbalance which occurs when a person consumes more food than is required and leads a sedentary lifestyle. Bad dietary habits, such as overeating, consuming junk food, sweet drinks, processed food and eating at night when you are awake for long hours and not eating enough vegetables...... all these causes obesity. Obesity can also be inherited. There are certain medications which also cause obesity. More details about all the causes can be found under our METABOLIC DISORDERS INFORMATION CENTER.

Obesity if ignored and continued for a long period of time causes many complications, such as endocrine disorder, metabolic disorder, cardiac disease, respiratory disease, vascular disease, psychiatric problems etc. There are many things which can be done to tackle obesity, such as exercising and dietary modifications. Surgical procedures which can be done for morbid obesity are gastric or intra-gastric balloon and bariatric surgery. Obesity is commonly seen with other medical conditions, such as back pain, diabetes, hypertension and cardiovascular disease. It is important for an obese person to seek medical advice before starting on an exercise and diet regime.

There are many types of exercises which can be done to reduce weight such as aerobics, weight training etc. The main aim of losing weight is to gain better health, stamina, mood, sleep etc.

To know more about obesity and the best methods which should be followed for losing weight, please refer to our side menu and read under our METABOLIC DISORDERS INFORMATION CENTER where we have also given different types of exercises targeting different body regions in great detail.

Lead Poisoning

Accumulation of lead in the body causes Lead Poisoning. Too much of lead causes damage to many important organs of our body. If treatment is not started, lead poisoning can be life threatening. Common cause for lead poisoning in children is: Lead-contaminated dust and lead based paint. Other causes include: Contaminated water, air and soil. Symptoms of Lead Poisoning in young children are: Problems with learning and growth retardation. In adults, the symptoms include: Hypertension, decreased alertness, pain and numbness in the extremities, headache, abdominal pain, muscular weakness, memory loss, mood changes, abnormal sperm/ decreased sperm and miscarriage/ premature birth.

Removing the source of lead exposure is the main line of treatment. Other than this, treatment includes chelation therapy and EDTA therapy.

To know more about lead poisoning, including its prevention, please refer to the side menu and click under our METABOLIC DISORDERS INFORMATION CENTER.

Type 1 Diabetes

Type-1 diabetes is a chronic medical condition in which the pancreas is not able to produce insulin. At the moment, there is no cure for type -1diabetes. Treatment is done to manage this condition. The exact cause of Type 1 diabetes is not known. According to experts, it can occur as a result of autoimmune disease, genetic factors and certain viral infections can trigger this disease.

Symptoms of Type 1 diabetes comprise of increased thirst, frequent urination, feeling hungry always, lethargy, weight loss and vision problems. Investigations for Type 1 Diabetes include: Glycated Hemoglobin (A1C) test, fasting blood sugar (FBS) test, random blood sugar (RBS) test, blood tests to check autoantibodies, blood and urine tests to assess cholesterol levels and the function of thyroid, liver and kidney.

Treatment is done to maintain normal blood sugar levels. For this insulin needs to be taken daily and a healthy diet should always be followed. Patient should also exercise regularly and should always monitor their blood sugar level all their life. Adjuvant Medications for Type 1 Diabetes include: Antihypertensive medications, blood thinning medications and cholesterol-lowering drugs.

Surgical procedures which can be done for this condition are: Pancreas transplantation, islet cell transplantation, immunosuppressant therapy, stem cell transplant. Some of these treatment modalities are still under research. A Type 1 Diabetes patient should also follow good hygiene, quit smoking, reduce alcohol, maintain weight and avoid stress as much as possible.

To know more about type-1 or juvenile diabetes, its causes, risk factors, symptoms, complications, investigations and treatment, please read under our METABOLIC DISORDERS INFORMATION CENTER on the side menu.

Other Metabolic Disorders Which are Covered in This Section:

Written, Edited or Reviewed By:


Last Modified On: May 2, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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