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Inherited Metabolic Disorders Explained By Leading Endocrinologist

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What are inherited metabolic disorders?

To understand what inherited metabolic disorders are, first we need to understand metabolism and metabolic disorders.

  • Metabolism:
    • Metabolism is a chemical process our body performs where it uses digestive enzymes to break down the food and convert it into fuel for your body to function and stay alive.
    • The nutrition you take in is made up of healthy proteins, carbs, fats and other nutrients needed by your body to build immunity and give you energy.
    • Enzymes are secreted by the organs in the digestive system to help absorb the nutrition from the food and digest the same.
  • Metabolic disorders:
    • When the process of metabolism fails and the body ends up either storing excess or becomes deficient in a certain nutritive input needed by it to stay healthy.
    • The body is very sensitive to the defects in our metabolic functions. For example: the brain needs potassium and sodium for electrical impulses. The nervous system also depends on your fat intake to stay healthy. So any excess or deficiency will cause problems in the system.
    • The conditions in our body that lead to metabolic disorders can be:
      • missing enzyme or vitamins.
      • abnormal chemical reactions like GERD & acid reflux.
      • diseases in liver, pancreas, spleen or gallbladder.

When these disorders become congenital and are seen to develop naturally in the next generation, it is called an inherited metabolic disorder.

Causes of Inherited Metabolic Disorders

So now that we understand metabolism and metabolic disorder, let us identify the causes of inherited metabolic disorders.
As the name indicates, the disorder has to develop in humans congenitally. Some of these disorders are so deep rooted that they are typical for a specific racial profile as well. For instance, a person can be born with a malfunctioning pancreas or liver and over time it rapidly deteriorates. These further depend on factors like:

  • hormonal imbalance during conception
  • deficiency of certain enzymes due to poor diet
  • consumption of too much of a certain kind of food
  • organ dysfunction where pancreas cannot produce necessary enzymes
  • mitochondrial dysfunction where the cell DNA reacts to environmental triggers, leading to lower energy production at cellular levels.

Further another cause can be mutation of genes passed down through generations in families. Based on racial profiling these are some of the most observed genetic metabolic disorders:

  • Sickle cell anaemia found in African Americans
  • Cystic fibrosis in some European races
  • Maple syrup urine disease in Mennonites
  • Gaucher’s disease in Jews of East Europe
  • Hemochromatosis in white Americans

Types of inherited metabolic disorders & treatment

  • Type I & II Diabetes: The most widely spread congenital metabolic diseases are the two types of diabetes. While type 1 is almost always genetic, type 2 might be acquired also. In type 1 the T cells kill beta cells that produce insulin. Due to this deficiency one may develop the following problems over time:
    • Nerve damage
    • Kidney malfunction
    • Eyesight issues
    • Increased risk of cardiovascular diseases
  • Inborn Errors of Metabolism (IEM): Though extremely rare, it is often found in infants who are not able to process the diet they consume.
  • Gaucher’s disease: This is a disease where the body is unable to break down fat which later accumulates as visceral fats in the liver, spleen, and bone marrow. This leads to pain, bone damage, and in severe conditions death. Enzyme replacement therapy might be the only treatment for this disease.
  • Glucose galactose malabsorption: When the system is not able to transport glucose and galactose across the stomach lining, it leads to severe diarrhoea and acute dehydration. This condition can only be repaired by eliminating lactose, sucrose, and other forms of glucose from the diet.
  • Hereditary hemochromatosis: Here the case is of excess iron, which gets deposited in the digestive organs leading to various complications. It can cause severe life threatening diseases like: liver cirrhosis, liver cancer, CVD and diabetes. In these cases one has to undergo regular phlebotomy which is a procedure by which the heavy iron laden blood is removed from the body.
  • Maple syrup urine disease (MSUD): This is another rare disease where certain amino acids from protein affect the neurons at birth. The rapid degeneration leads to death of the newborn within months if not treated by limiting a specific branch-chain amino acid found in meat, dairy, and legumes.
  • Phenylketonuria (PKU): This condition is the inability of the body to produce phenylalanine hydroxylase enzymes which results in organ damage, bad posture and even mental retardation. This is again managed by limiting the intake of certain proteins.

Common symptoms of inherited metabolic disorders

As enumerated above, inherited metabolic disorders can be highly diverse in their origin and causes as it affects the body in a lot of different ways. But the most common signs are:

  • Fatigue or tiredness
  • Muscle weakness due to mitochondrial dysfunction.
  • Sudden or unexplained weight gain or loss.
  • Patchy colourless skin
  • Stomach ache and nausea
  • Lack of proper appetite
  • Developmental issues in babies and infants.

Diagnosis of inherited metabolic disorders

Since the origin is congenital it is more likely to be spotted at the time of birth. However, if the problems are triggered later in life the usual process is:

  • Physical examination for symptoms.
  • Analysis of family’s medical history for a genetic link.
  • Pathological tests like blood tests to determine the anomalies.

To summarise, it is not easy to live with an inherited metabolic disease and in most cases these cannot be cured. However, they can be managed through proper management to prevent fatality. If your family has a history of metabolic disorders it is essential for you to regularly check for symptoms and get a full body check up done annually to keep the problems at bay. You can reach out to our specialist in endocrinology Dr. Abhay Ahluwalia by booking an appointment or simply walking in to the nearest CK Birla Hospital.

FAQ’s:

How do you test for metabolic disorders?

You reach out to an endocrinologist and get yourself assessed for any kind of symptoms mentioned above. The doctor will suggest you some blood tests to understand the kind of metabolic disorders you may have. Sharing your family’s medical history helps immensely.

What metabolic disorders cause weight gain?

Poor metabolism leads to hormonal imbalance affecting thyroid causing weight gain. It can also restrict the production of insulin used to break down carbs in the body leading to weight gain. There can be some unexplained weight gain that is also linked to this condition.

What kind of doctor treats metabolic disorders?

Since a lot of the problems are on enzymes and hormones it is effectively looked into by an experienced endocrinologist. Apart from this a paediatric surgeon can identify problems spotted at birth.

Is there any way to prevent inherited metabolic disorders?

If you have it then a lifelong commitment to a healthy lifestyle may save your next generation from inheriting it.

  • Getting 30 minutes of physical activity everyday
  • Eat a balanced diet as much as your condition allows
  • Limit salts and trans fats completely
  • Maintain a healthy body weight
  • Quit smoking

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