Metabolic Disorders & Effect on Pregnancy
Metabolism is the process your body uses to get or make energy from the food you eat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. Metabolic syndrome is a growing problem globally and is a contributor to non-communicable diseases such as type II diabetes and cardiovascular disease. The risk of developing specific components of the metabolic syndrome such as obesity, hyperlipidemia, hypertension, and elevated fasting blood sugar has been largely attributed to environmental stresses including poor nutrition, lack of exercise, and smoking.
Women with metabolic syndrome are at increased risk of developing pre-eclampsia whereas women with problems of high blood pressure in pregnancy have an increased risk of cardiovascular disease later in life. Indeed, all women with maternal-placental syndromes – including those with placental abruption and placental infarction – have an increased risk of premature cardiovascular disease.
Enormous advances have been made in the recognition and treatment of metabolic disorders. Sometimes there are highly complex pathways that result in a metabolic disorder. At other times, one miniscule error in an individual’s DNA is solely responsible. These discoveries have permitted scientists to develop extraordinary treatments for affected individuals, and the pace of discovery continues to accelerate.
Symptoms of metabolic disorders will vary among individuals and by the type of disorder. Some metabolic disorders result in mild symptoms that can be managed with medication and lifestyle changes, while others can cause severe and life-threatening symptoms, such as breathing problems, seizure, and organ failure. Some inherited metabolic disorders can require long-term nutritional supplementation and treatment, while metabolic disorders that arise as a result of another disease or condition often resolve once the underlying condition is treated.
Metabolic disorders cause disturbances in the normal chemical processes in the body and will result in different symptoms, depending on the particular disorder. The symptoms can vary in intensity among individuals.
Serious symptoms that might indicate a life-threatening condition:
In some cases, metabolic disorders can be life threatening. Seek immediate medical care if you, or someone you are with, have any of these life-threatening symptoms including:
- Bluish coloration of the lips or fingernails
- Change in mental status or sudden behavior change, such as confusion, delirium, lethargy, hallucinations and delusions
- Respiratory or breathing problems, such as shortness of breath, difficulty breathing, labored breathing, wheezing, not breathing, choking
A number of factors increase the risk of developing metabolic disorders. Not all people with risk factors will get metabolic disorders. Risk factors for metabolic disorders include:
- Certain chronic medical conditions, such as lung or kidney disease (includes any type of kidney problem, such as kidney stones, kidney failure and kidney anomalies)
- Family history of genetic metabolic disorder
How are metabolic disorders treated?
Treatment for metabolic disorders begins with seeking medical care from your health care provider. The treatment approach for metabolic disorders depends on the specific disorder. Inborn errors of metabolism (inherited metabolic disorders) are often treated with nutritional counseling and support, periodic assessment, physical therapy, and other supportive care options. Acquired metabolic disorder treatment will include normalizing the metabolic balance by both reversing the cause and administering medications.
Treatment options for inherited metabolic disorders
Multiple treatment options are available for inherited metabolic disorders. Examples include:
- Bone marrow transplantation
- Enzyme replacement therapy in selected patients
- Gene therapy in selected patients
- Medications to reduce symptoms, such as pain or low blood sugar
- Mineral supplementation
- Nutritional counseling
- Physical therapy
- Surgery to relieve pain or symptoms
- Vitamin supplementation
What are the potential complications of metabolic disorders?
Complications of untreated metabolic disorders can be serious, even life threatening in some cases. You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you. Complications of metabolic disorders include:
- Organ failure or dysfunction
- Seizures and tremors
- Unconsciousness and coma
Seek immediate medical care for serious symptoms, such as severe difficulty breathing; bluish coloration of the lips or fingernails; seizure; and change in level of consciousness or alertness, such as passing out or unresponsiveness.
Seek prompt medical care if you are being treated for metabolic disorders but mild symptoms recur or are persistent.