If you or someone you know suffer from a metabolic disorder, you are probably learning pretty quickly that it can be highly complex. Because such disorders are very rare, they are the topic of a lot of research so scientists can discover the causes and problems associated with them. To better understand metabolic disorders better, you must first understand the bodily processes they impact, what havoc they can wreak on your systems.
What is Metabolism?
Our body gets energy from the food we eat. Metabolism is the name of the actual chemical process the body uses to transform the food into energy. The chemicals in the digestive system help convert the food, which is made up of fats, proteins and carbohydrates into sugars and acids our body uses as fuel or energy. Enzymes in the digestive system break the food down then carries it to the cells where it can be used as fuel by the body either immediately, or stored in the liver, body fat, and muscle tissues for later use.
What is a Metabolic Disorder?
Metabolic disorders occur when the body is unable to process the fats, proteins, or carbohydrates properly. When the normal process is disrupted by an abnormal chemical reaction in your body, you can develop a metabolic disorder. Typically when this occurs, you have too much of certain essential substances or not enough of others.
A metabolic disorder can take many forms, such as:
- Disease in organs needed for proper metabolism such as the liver, pancreas, or endocrine glands.
- Missing essential enzymes or hormones that are needed for chemical reactions in the body.
- Essential vitamin or nutritional deficiencies.
When these chemical processes in the body do not work as they should, a metabolic disorder occurs. Some metabolic disorders can be diagnosed by routine screening tests performed at birth. Other disorders are discovered only after symptoms occur.
What Causes Metabolic Disorders?
Most cases of metabolic disorders are inherited and are passed down through generations of families. Inherited metabolic disorders are caused by genetic gene mutations. This results in missing or dysfunctional enzymes that are needed for the cell to properly perform metabolic processes. Metabolic disorders can refer to different types of medical conditions caused by genetic defects that are most commonly inherited from parents.
You can also develop a metabolic disorder if certain organs like the pancreas or liver stop functioning properly. There are many different reasons why this could happen, and it can be the result of a deficiency of a certain essential hormone or enzyme, eating too much of some foods, or a variety of other key factors.
In addition, according to the National Institute of Health, certain ethnic or racial groups are actually more likely to pass on defective genes that can cause metabolic disorders in children.
Common Genetic Metabolic Disorders by Race or Ethnicity
- European – Cystic Fibrosis.
- African – Sickle Cell Anemia.
- Mennonite – Maple Syrup Urine Disease.
- Jewish-Eastern European descent – Gaucher’s Disease.
- Caucasians in the U.S. – Hemochromatosis.
- European-Jewish descent, French-Canadians, and Louisiana Cajun communities – Tay-Sachs.
People who have genetically inherited metabolic disorders can pursue genetic counseling to get more information about the risk of passing the metabolic disorders to their children. These defective genes can often be diagnosed by routine screening tests performed at birth to get early treatment for metabolic disorders in infants.
Types of Metabolic Disorders
With over 25 million adults and children with the illness, diabetes is probably the most common metabolic disease in the world. However, there are literally hundreds of inborn errors in metabolism (IEM) that have been discovered. Metabolic disorders symptoms vary, as do the many types that exist. There are various kinds of metabolic disorders, and their symptoms, treatments, and prognoses obviously vary widely. Some of these disorders are extremely rare; however, we do have information on the more common types of metabolic disorders such as the ones listed below.
Common Metabolic Disorders
- Gaucher’s Disease: This disorder causes the inability to break down certain fats which accumulates in the spleen, liver and bone marrow. It is treated with enzyme replacement therapy and can result in pain, bone damage, and even death.
- Diabetes: There are 2 types of diabetes: We do not know the exact cause of Type 1, although it is suspected that there is a strong genetic factor to this disease. The T-Cells attack beta cells in the pancreas, the cells that produce insulin. The lack of insulin can cause severe complications such as nerve and kidney damage, eyesight issues, and increased risk of heart disease. As for Type 2, it commonly results from being overweight. Most people with Type 2 diabetes acquire it later in life.
- Glucose Galactose Malabsorption: This disorder is a defect in the transport of glucose and galactose across the stomach lining. It can lead to severe dehydration and diarrhea. Most people have to remove lactose, glucose, and sucrose from the diet to reduce symptoms.
- Hereditary Hemochromatosis: In this disorder, excess iron is deposited in the organs and can result in cirrhosis and cancer of the liver and heart disease. Treatment usually consists of removing blood from the body (phlebotomy) on a regular basis.
- Maple Syrup Urine Disease: Disrupting the metabolism of certain amino acids, this condition causes degeneration of the neurons. It is severe, and if left untreated, death will result within a few months of birth.
- Phenylketonuria: Commonly referred to as PKU, this disorder causes an inability to produce the enzyme phenylalanine hydroxylase. This can lead to organ damage, mental retardation and even unusual posture. It is typically treated by limiting the dietary intake of certain proteins.
- Tay-Sachs Disease: This disorder causes a progressive deterioration of the brain and neurological system. It can even result in deafness, blindness or paralysis. Most cases are diagnosed within 6 months from birth. A DNA test for the gene usually confirms diagnosis.
- Wilson’s disease: This disorder causes an overabundance of copper to accumulate in the liver. The buildup can cause damage to the liver, cirrhosis and even liver failure. The excessive copper can also be released into other parts of the body causing damage to the brain, eyes or red blood cells. People born with Wilson’s disease get an abnormal gene from both parents.
- Metachromatic Leukodystrophy: This condition causes progressive deterioration of the nervous system and the brain that eventually results in death. This rare genetic metabolic disease is very dangerous and is often misdiagnosed. By the age of 4, children with this disorder have typically not developed appropriately and may have some speech, vision, and seizure issues. Eventually, they will begin to exhibit learning difficulties and possible muscle spasms. Surgery is eventually needed to repair bone deformities due to the extreme muscle spasms and sometimes a bone marrow transplant is required.
- Niemann-Pick Disease : This disorder causes infants to develop liver enlargement. The baby also is typically very difficult to feed and may have nerve damage as a result.
- Peroxisomal Disorders: This condition is very similar to lysosomes. Peroxisomes are actually tiny spaces filled with enzymes that are found inside of cells. The poorly functioning enzymes inside peroxisomes result in a toxic buildup of products of metabolism. Specific peroxisomal disorders include:
- Zellweger Syndrome – This disorder typically induces nerve damage in infants, abnormal facial features, and an enlarged liver.
- Adrenoleukodystrophy – This disorder includes server nerve damage during childhood or showing later in early adulthood.
Metabolic Disorders Symptoms
The symptoms of a metabolic disorder can appear suddenly or come in progressive spurts. In addition, certain symptoms can be brought on by medication, food, dehydration, and other minor illnesses. Some people exhibit symptoms at birth, while it may take several years for others. These are some of the common symptoms:
- Weight Loss.
- Poor appetite.
- Abdominal pain.
- Failure to gain weight or grow.
- Developmental delay.
- Abnormal odor of urine, breath, sweat, or saliva.
As you can see, metabolic disorders can cause a variety of uncomfortable complications and could be difficult to trace. In some cases, they are not too severe; however, if you suspect that you might have such disorders, you should head to a specialist immediately. With the abundance of medical innovations and cures, treatment is no longer a miracle.