Common Types of Metabolic Disorders

Common Types of Metabolic Disorders

Metabolic disorders are a group of conditions that affect the body’s ability to perform critical biochemical reactions essential for life. These reactions, called metabolism, involve complex processes such as converting food into energy, eliminating toxins, or synthesizing important compounds. When metabolism is disrupted due to genetic, acquired, or environmental factors, harmful substances can accumulate, and vital substances can become deficient, leading to metabolic diseases. These disorders vary greatly in symptoms and severity but often greatly impact the quality of life if not managed properly. This article will provide an overview of some of the most common types of metabolic disorders.

Inborn Errors of Metabolism

Inborn errors of metabolism (IEMs) constitute a large class of inherited metabolic disorders caused by defects in the enzymes that facilitate biochemical reactions. IEMs often present in infancy or childhood, as metabolic pathways are active from birth. Each IEM affects different organs and systems based on where dysfunctional enzymes are expressed. Hundreds of different IEMs exist, but some main subtypes include:

  • Phenylketonuria: It is caused by a deficiency of an enzyme that breaks down the amino acid phenylalanine. When phenylalanine builds up in the body along with its metabolites, it can lead to intellectual disability if left untreated. PKU is detected early on through newborn screening tests.
  • Maple syrup urine disease: Maple syrup urine disease is caused by a defective enzyme that cannot properly metabolize the branched-chain amino acids leucine, isoleucine, and valine. The buildup of these amino acids and their byproducts is toxic to the brain, leading to neurological symptoms such as seizures in infants. If left untreated, the neurological damage caused by the accumulation of branched-chain amino acids can be severe.
  • Glycogen storage diseases: These are a group of over 12 disorders caused by defects in the enzymes involved in glycogen synthesis or breakdown. Faulty or deficient enzymes lead to the accumulation of abnormal glycogen in the liver and muscles, resulting in hypoglycaemia along with liver and muscle dysfunction. The different types of glycogen storage diseases are classified based on the specific enzyme that is defective along the glycogen metabolism pathway.
  • Organic acidaemias: Methylmalonic acidaemia is caused by a defect in an enzyme needed to metabolize certain proteins and fats. This disorder leads to high anion gap metabolic acidosis, vomiting, lethargy, seizures, and developmental delay if left untreated.

The long-term prognosis for those with IEMs depends greatly on the specific disease, severity of symptoms, and how early treatment is initiated. If you are facing any metabolism-related disorder, scheduling an appointment at Hale Clinics is recommended, which has the Best Endocrinologist Services in Mohali.

Best Endocrinologist Services in Mohali.

Diabetes Mellitus

Diabetes mellitus is one of the most widespread metabolic disorders globally. It develops when the body cannot properly regulate blood glucose levels due to impairments in insulin secretion or insulin signalling. This causes high blood sugar, which damages tissues over years to decades. The two main types are:

  • Type 1 diabetes: An autoimmune condition where the pancreas cannot make insulin. It often starts in childhood, requiring lifelong insulin therapy. Around 10% of diabetes cases are type 1.
  • Type 2 diabetes: It develops when tissues become resistant to insulin’s effects. Typically starts in adulthood, but rates among youth are rising. It accounts for around 90% of diabetes and is managed through weight loss, oral medication, and sometimes insulin.

Both types lead to damaging high blood sugar levels along with symptoms like excessive thirst, frequent urination, hunger, and fatigue. Acute risks include diabetic ketoacidosis and hyperglycaemic hyperosmolar state. Long-term vascular damage can cause retinopathy, nephropathy, neuropathy, heart disease, and stroke. Proper blood sugar control and lifestyle management aimed at weight optimization drastically reduce these risks.


Dyslipidaemia refers to unhealthy cholesterol and triglyceride levels. Like diabetes, lipid disorders correlate closely with lifestyle factors like diet, exercise, and smoking. dyslipidaemia underlies diseases like:

  • Atherosclerosis: Lipid deposits narrow arteries supplying oxygen-rich blood to the heart and brain, increasing the chances of heart attacks and strokes.
  • Non-alcoholic fatty liver disease (NAFLD): Fat deposition in liver cells impairs function over time, sometimes advancing to end-stage cirrhosis requiring transplantation.

High cholesterol manifests few obvious symptoms (though skin lesions called xanthomas may appear). Identifying and correcting contributing lifestyle factors early is key to prevent atherosclerosis, heart disease, stroke, and related vascular outcomes down the road. This is typically accomplished through dietary adjustments, exercise regimens, smoking cessation, and medications like statins.


Metabolic disorders arise when the complex biochemical pathways facilitating life-sustaining processes like energy production and waste elimination malfunction. While symptoms vary immensely based on the mechanisms affected, these diseases can be severely debilitating or even fatal if not managed properly.

If you or a loved one experience any concerning persistent signs or symptoms, Consider Hale Clinics, renowned as the Best Multi Specialty Clinics in Mohali, as early evaluation and treatment provide the best opportunity for positive outcomes for these chronic lifetime conditions.


Q1. What are metabolic disorders?

Ans. Metabolic disorders are conditions that disrupt the body’s ability to perform essential biochemical reactions necessary for life. 

Q2. What are inborn errors of metabolism (IEMs), and how do they manifest?

Ans. Inborn errors of metabolism are inherited disorders caused by defects in enzymes responsible for biochemical reactions. They often present in infancy or childhood and can affect different organs and systems depending on the specific enzyme deficiency. 

Q3. What are some common types of IEMs?

Ans. It includes phenylketonuria (PKU), maple syrup urine disease, glycogen storage diseases, and organic acidaemia. 

Q4. What are the consequences if phenylketonuria is left untreated?

Ans. If left untreated, the buildup of phenylalanine and its metabolites can lead to intellectual disability and other neurological problems.

Q5.  What is diabetes mellitus?

Ans. Diabetes mellitus is a metabolic disorder characterized by high blood sugar levels due to insufficient insulin production or insulin resistance.

Q6. What are the main symptoms of dyslipidaemia?

Ans. Dyslipidaemia often manifests few obvious symptoms, though skin lesions called xanthomas may appear in some cases. However, it can lead to serious vascular outcomes such as heart disease and stroke if left untreated. 

Q7.How can dyslipidaemia be managed and prevented?

Ans. Managing dyslipidaemia involves lifestyle adjustments such as dietary changes, regular exercise, smoking cessation, and, in some cases, medication like statins.