What is a Metabolic Disorder?

Understanding Metabolic Disorders: Key Symptoms & Diagnosis

Metabolic disorders are conditions that disrupt normal biochemical processes, either from genetic enzyme deficiencies (inherited metabolic disorders) or acquired dysfunction (like metabolic syndrome). This could be caused by genetics or unhealthy lifestyle practices.  A typical example is metabolic syndrome, a cluster of conditions that include elevated blood pressure, high blood sugar, excess body fat, and abnormal cholesterol or triglyceride levels.

Those who have at least three of those conditions are more likely to develop heart disease, stroke, and type 2 diabetes. Thus, understanding the causes and symptoms, while maintaining a healthy lifestyle, can help control and prevent these disorders.

Keep reading to learn more about metabolic disorders.

What are the Types of Metabolic Disorders?

Metabolic disorders are diseases where the body cannot process food into energy. These conditions can be broadly classified as inherited metabolic disorders and metabolic syndrome.

Inherited metabolic diseases are genetic diseases caused by mutations that impair the function of enzymes. This results in the accumulation of toxins or a lack of essential substances. Examples include:

1. Phenylketonuria (PKU): A condition that occurs when the body cannot break down phenylalanine, an amino acid.
2. Maple Syrup Urine Disease: A disorder of amino acid metabolism resulting in sweet-smelling urine.
3. Gaucher Disease: Abnormal storage of lipids in the body in the liver and spleen.

Such disorders are often managed by specialized diets, enzyme replacement, or other medications. Metabolic syndrome is a group of conditions that occur together and increase the risk of heart disease, stroke, and type 2 diabetes. These conditions include:

1. High Blood Pressure: High force of blood on the walls of arteries.
2. High Blood Sugar: It indicates insulin resistance.
3. Belly Fat: Abdominal obesity.
4. Unusual Cholesterol or Triglyceride Concentrations: Indicates dyslipidemia.

Learning about these diseases is essential so that a diagnosis can be readily made and appropriate treatment initiated to improve quality of life and minimize complications.

What are the Causes of Metabolic Disorders?

Metabolic diseases can have multiple causes. Some of them are as follows:

• Genetic Mutation: Mutations inherited in a few genes can cause enzyme deficiency and impede normal metabolic pathways.
• Insulin Resistance: When insulin becomes less effective in cells, they cannot efficiently take in glucose, which builds up in the blood.
• Obesity and Lack of Exercise: Being overweight, especially if in the midsection, increases the risk of metabolic syndrome.
• Poor Diet: Eating foods high in calories and low in nutrients can cause weight gain and metabolic imbalances.
• Age and Ethnicity: The risk for metabolic diseases increases with age and is higher in some racial groups, including Hispanic people.
• Other Medical Conditions: Conditions such as polycystic ovary syndrome (PCOS) and some immune system disorders can raise the risk.

What are the Symptoms of Metabolic Disorders?

The signs and symptoms may differ depending on the specific metabolic disorder and the degree of severity. You must check with your healthcare provider for a proper diagnosis and treatment if it persists. The symptoms of metabolic disorders include:

• Persistent fatigue
• Muscle weakness
• Unintended weight changes
• Altered skin pigmentation
• Abdominal discomfort
• Nausea or vomiting
• Reduced appetite
• Developmental delays in infants

How to Diagnose Metabolic Disorders?

The diagnosis of metabolic diseases is obtained by detailed medical history, physical examination, and specific labora­tory investigations. Healthcare professionals analyze risk factors based on waist circumference, blood pressure, and blood tests (e.g., lipid profile, and fasting blood glucose)

It is diagnosed when someone shows at least three of the following:

• Large waist circumference
• High levels of triglycerides
• Low levels of HDL cholesterol
• High blood pressure
• High fasting blood glucose

Such health checks can lead to the early detection of people at risk of heart disease and type 2 diabetes, allowing them to be treated and managed.

Metabolic disorders can be challenging to overcome; however, with proper diagnosis, treatment and lifestyle modifications, they can be better managed and controlled. It is also advised to have health insurance to secure your health and finances during critical times.

At Star Health, we offer coverage for metabolic disorders under our tailored insurance plans. We also provide hassle-free cashless claim settlements with reduced turnaround time across over 14,000 network hospitals in India.

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→ What is a Genetic Disorder