Metabolic Abnormalities

About

Metabolic Abnormalities

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, 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, 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 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, 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.

Causes

What causes metabolic abnormalities?

Metabolic abnormalities can be caused by your genetics (inherited), or by behaviors that affect your metabolism (acquired). A gene that controls how your body makes a chemical or enzyme, or accomplishes a specific metabolic process, can be altered (mutated). This genetic change can be passed down from your parent(s), or it can happen on its own. 

Acquired abnormalities can be caused by many behaviors, including:

  • Abuse of alcohol or other drugs, including laxatives or diuretics 
  • Exposure to poisons
  • Overuse of medications such as aspirin or acetaminophen
  • Kidney or liver problems
  • Cancer
  • Organ malfunction or disease 
  • Respiratory failure due to infection or trauma 
  • Blood infection (sepsis)
  • Unknown causes

With Insurance

Behavioral Health

Your copay
Depending on insurance

Without Insurance

Behavioral Health

$240

Initial Visit

$99

Follow Up

Symptoms

What are metabolic abnormalities’ symptoms?

Symptoms vary according to the type of metabolic problem you have. Metabolic abnormalities can cause pain, organ damage, extreme fatigue and limited growth. Symptoms can happen suddenly or develop slowly. They can be triggered by illness, dehydration, poor nutrition or medications. 

The more common symptoms of metabolic abnormalities include:

  • Unintended weight loss or gain
  • Failure of babies to gain weight and grow
  • Decreased or increased appetite
  • Stomach pain
  • Jaundice
  • Vomiting
  • Muscle weakness and pain
  • Unpleasant breath or saliva odor
  • Unpleasant sweat or urine odor
  • Extreme fatigue
  • Breathing problems
  • Skin changes color, thins, heals slowly, bruises easily
  • Frequent urination
  • Seizures
  • Migraine headaches
  • Coma
  • Visual and hearing problems
  • Susceptibility to infections
  • Delayed development in children

If any of the following life-threatening symptoms occur, call 911 or go to an emergency room immediately:

  • Bluish tint to skin or lips
  • Fainting or loss of consciousness 
  • Confusion, disorientation, hallucinations or delusions
  • Breathing problems 
  • Seizure

Diagnosis

How are metabolic abnormalities diagnosed?

In infants, some metabolic disorders can be diagnosed at birth with routine screening tests. 

In adults, your doctor or endocrinologist will start with a physical exam, including your symptoms, family history and lifestyle. Screening tests will be ordered to examine how your body handles amino acids, fat, glucose, and determine your metabolic rate (basal metabolism rate). A blood test, called a metabolic panel, may be included to diagnose the specific abnormality you have. 

Treatment

What are the treatment options for metabolic abnormalities?

Metabolic abnormalities require treatment to avoid severe damage or death. Treatment depends on the specific type of abnormality you have. Eating a special diet, replacing enzymes or chemicals, or removing toxic byproducts are several treatments. 

It’s not possible to prevent inherited metabolic abnormalities. However, there are a number of healthy-lifestyle steps you can take to prevent acquired abnormalities:

  • Reach and maintain a healthy weight.
  • Eat a healthy diet that includes vegetables, fruits, whole grains, beans and lean meats. 
  • Drink water instead of soft drinks, juice and other high-sugar beverages, including alcohol.
  • Build physical activity into every day.

References

Mayo Clinic. (July 2017). Inherited Metabolic Disorders.
Retrieved 8-2-21, {https://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/symptoms-causes/syc-20352590}
Baptist Health (n.d.). What are Metabolic Disorders? Retrieved 8-2-21, {https://www.baptisthealth.com/services/endocrinology/conditions/metabolic-disorders}
Houston Methodist. (n.d.) Metabolic Diseases and Disorders. Retrieved 8-2-21, {https://www.houstonmethodist.org/endocrinology-diabetes-metabolism/metabolic-disease/}

Information

Medically reviewed by:

Jodi B. Nagelberg, MD, MHA

Dr. Jodi Nagelberg is an endocrinologist, with board certification in Interal Medicine. She also holds a masters in Health Administration and Policy. She joins TeleMed2U as Endocrinology Director and supports our mission to increase access to healthcare for patients everywhere.Postgraduate: University of Southern California Sol Price School of Public Policy Los Angeles, CA  Masters, Health Administration and Policy, 2011

Meet our doctors

TM2U Curve inverted

Affordable –
with or without insurance

With Insurance

Behavioral Health

Your copay
Depending on insurance

Without Insurance

Behavioral Health

$240

Initial Visit

$99

Follow Up