What are metabolic abnormalities?
A metabolic abnormality can occur if your body’s normal metabolic process is disrupted, or fails to function properly. It can happen if you have a deficiency or absence of hormones or enzymes. They are required for metabolism’s chemical process to work normally. Without them, your body will have too much or too little of the substances you need to live.
Metabolic abnormalities can occur if you inherit an abnormality, also called inborn errors of metabolism. Abnormalities can also occur due to a behavior that’s causing your metabolism to malfunction called acquired abnormality. Acquired metabolic abnormalities are linked to unhealthy lifestyles such as being inactive or overweight. Metabolic abnormalities can also develop if an internal organ stops functioning properly.
What is metabolism?
Metabolism is how your body converts food and beverages into energy and gets rid of water and wastes. The energy conversion happens through a process of chemical reactions. These reactions let your body use energy for fuel immediately or store it for future use. Your body needs energy constantly for brain activity, blood circulation, breathing, repairing cells and physical activity.
Are there different types of metabolic abnormalities?
There are hundreds of metabolic abnormalities, disorders and diseases. The most common metabolic disease is type 2 diabetes.
Other metabolic abnormalities include:
- Familial hypercholesterolemia is an inherited disorder affecting the processing of cholesterol, causing a higher risk of heart disease.
- Friedreich ataxia disrupts the processing of a protein called frataxin.
- Gaucher’s disease is a disruption of fat processing that’s potentially life threatening. Fat accumulates in the liver, spleen and bone marrow, causing lung and bone disease in severe cases.
- Glucose galactose malabsorption prevents glucose and galactose from going through the stomach lining.
- Hereditary hemochromatosis causes excess iron in the heart, liver or other organs.
- Hunter syndrome, a rare inherited disorder, is caused by a missing or insufficient enzyme that breaks down complex molecules. They build up to a harmful level, eventually causing damage to mental development, organ function and physical abilities.
- Krabbe (KRAH-buh) disease, an inherited disorder, destroys the nerve cells’ protective coating in the brain and nervous system. In babies It’s usually fatal by age 2. In adult development the outcomes vary greatly.
- Lysosomal storage disorders are enzyme deficiencies that permit toxic substances to accumulate.
- Maple syrup urine disease causes a breakdown of neurons, causing death if left untreated.
- Metal metabolism disorders leave trace metals in your body.
- Mitochondrial disorders in cells can damage muscles.
- Niemann-Pick is a rare inherited disorder affecting fat metabolization within cells, causing a progressive loss of nerve, brain and other organ functions.
- Organic acidemia causes an accumulation of organic acids in your urine.
- Peroxisomal disorders are caused by malfunctioning enzymes that allow toxic substances to accumulate.
- Phenylketonuria (PKU) blocks the body from producing an enzyme.
- Porphyria causes a buildup of chemicals that are essential for hemoglobin (a protein in red blood cells) to function. It can affect the nervous system or skin, or both.
- Tay-Sachs disease is a rare inherited disorder that causes the absence of an enzyme that breaks down fat. Fat builds up to toxic levels leading to blindness, paralysis and death.
- Urea cycle disorders disrupt how your body removes waste.
- Wilson’s disease is a rare inherited disorder that causes copper to accumulate in your brain, liver and other organs.
