Metabolic Disorders

Metabolic disorders weight gain

Last Updated December 20th, 2021

Overview

The global burden of non-communicable diseases is very high at present. The most common among them are “metabolic disorders”. These disorders may be present at birth or may develop at some point in time. Metabolic disorders may affect people of all age groups and usually have adverse neurological and cardiovascular effects. According to a recent survey by the World Health Organisation, nearly 1-3% of the children in all the countries are suffering from metabolic disorders. Recent epidemiological studies by the Center for Disease Control and Prevention (CDC) suggest that 10% of the entire adult population in the USA suffer from metabolic disorders. In due course of time, these diseases become chronic in nature and are difficult to cure even through medical intervention.

 

What are metabolic disorders?

Metabolic disorders pillsA metabolic disorder is a collective term for a group of syndromes that disrupt the normal metabolic processes in the body. The normal metabolic process consists of two mechanisms- anabolism (forming complex molecules from simpler ones) and catabolism (forming simpler molecules from complex ones). Changes in any of the two processes can occur because of certain chemical reactions in the body. These disorders gradually lead to a metabolic block that causes a build-up of toxic molecules inside the body. Two main conditions are seen as metabolic disorders. Very little energy is generated. This is the first condition. Again, the body cannot utilize this energy properly. This is the second condition. Metabolic disorders may impact a few vital organs of the body. These are liver, intestine, and pancreas.

 

What causes metabolic disorders?

The main causes of metabolic disorders are listed below-

  • Infections: Infections caused by a few viral pathogens may cause acid-base imbalance, electrolyte imbalance, and dehydration. Again, infections mediated by few bacterial agents such as Escherichia coli can trigger the secretion of water and electrolytes from the intestinal epithelium. This leads to diarrhea, dehydration and electrolyte imbalance.
  • Toxicity: Toxicity induced by certain compounds can damage tissues in the gastrointestinal tract, causing secondary metabolic diseases. For example, certain organophosphate compounds disturb the cholinesterase enzyme function (metabolism of acetylcholine). Again aflatoxin B1, which is a kind of fungal toxin can cause acute liver damage and may even lead to hepatic encephalopathy.
  • Metabolic disorders diabetesMedications: Overuse of certain drugs can cause inhibition of necessary enzymatic functions. For example, overuse of Cortisone can inhibit the enzyme phospholipase A2 and may lead to Cushing’s disease.
  • Hormones: Hormonal imbalance (during pregnancy or menopause) can disturb normal metabolic processes. Examples of this category are Diabetes mellitus (due to insulin deficiency), Addison’s disease (due to aldosterone deficiency) and Hyperparathyroidism (metabolic bone disease).
  • Diet: Several vitamins and essential minerals act as co-factors for different enzymes for energy metabolism. An absence of these nutrients in regular diet can cause metabolic disorders.
  • Genetic factors: Several genetic defects (mainly autosomal recessive disorders) may lead to erroneous synthesis or deficiency of enzymes responsible for metabolic activities. Two prominent examples of this category are the diseases causing a deficiency of pyruvate kinase and phenylalanine hydroxylase enzymes.

 

What are the warning signs?

Metabolic disorders manifest through some common symptoms-

 

What are the types of metabolic disorders?

Metabolic disorders have 10 main categories-

  • Adrenoleukodystrophy (ALD): It is a metabolic disorder of genetic origin. The patients have long chains of fatty acids in their brain and adrenal cortex. Inhibition of enzymes causing breakdown of fatty acid chains occurs, causing degeneration of myelin sheath on the nerve fibers. It may lead to neurological dysfunctions and death.
  • Type I Diabetes: Type I Diabetes Mellitus is a serious form of the metabolic disorder. Insulin deficiency is the primary cause of diabetes. The source of Type I Diabetes may be traced back to mutated variants of two genes – IDDM1 and IDDM 2.
    Gaucher disease: It is a kind of genetic disorder caused by mutation of a gene associated with the glucocerebrosidase enzyme, which is responsible for the breakdown of a particular fat called glucocerebroside. People suffering from this disease usually have excess accumulation of fat in bone marrow, liver and spleen. This disease can cause anemia, bone damage, and death.
  • Glucose-galactose malabsorption (GGM): This metabolic disorder is characterized by intolerance of glucose, sucrose, lactose, and galactose. Glucose and galactose are not absorbed properly across the linings of the small intestine. It is a recessive disorder. Two defective copies of the SGLT1 gene are responsible for this disease.
  • Hereditary hemochromatosis: It is a metabolic disorder characterized by excess absorption of iron from the gut. This results in excess iron in several organs like the liver and pancreas. Mutations in the HFE gene are primarily responsible for Hemochromatosis.
  • Lesch Nyhan syndrome: It is an inherited metabolic disorder that arises from impaired metabolism of purines, which are integral parts of DNA and RNA. Several enzymes are involved in the synthesis and recycling of purine. Mutations in the HPRT1 gene are responsible for this disease.
  • Maple syrup urine disease: It is characterized by the urine of distinct odor (maple syrup) and is caused by incomplete metabolism of amino acids.
  • Menkes syndrome: This is a congenital metabolic disorder. Loss of copper absorption by the cells occurs in this disease. It causes arterial and cerebral degeneration.
  • Phenylketonuria: It is a form of a metabolic disorder caused by the deficiency of the phenylalanine hydroxylase enzyme. It can cause retardation, organ damage and complications during pregnancy.
  • Lysosomal storage disease: It is characterized by incomplete degradation of catabolic compounds, which thereby get accumulated within the tissues. Damage to Central Nervous System occurs in this condition.

 

What are the main diagnostic tests?

For proper diagnosis of metabolic disorders, some laboratory tests are necessary-

  • Fasting glucose
  • Total cholesterol count and LDL cholesterol count
  • Blood pressure
  • Triglycerides

 

Treatment and prevention

Adrenoleukodystrophy (ALD) 

Treatment 

  • Stem cells can be taken from bone marrow through a bone marrow replacement surgery. This treatment method helps in reducing the progression of ALD if diagnosed early.
  • In cases where the adrenal gland does not produce sufficient hormones, steroids may be administered to help treat adrenal insufficiency.
  • Physical therapies help in relieving spasm and reducing muscle stiffness.

Prevention

  • Individuals, who have a family history of ALD, can seek genetic counseling before starting a family.
  • If they carry the gene, they can make a decision on whether they want to have a child or not.
  • If the child is born with ALD, diagnosis, and treatment must be done in its early stages to prevent the condition from aggravating.

Gaucher’s disease 

Treatment 

  • Treatment for this condition may include enzyme replacement therapies that the patient will need to undergo. This therapy is done by providing artificial enzymes intravenously.
  • Medications to reduce the level of fatty substances in those with Gaucher’s disease are prescribed.
  • Osteoarthritis medicines are administered to those with Gaucher’s disease as well. These medications help in increasing the bone density in patients.

Prevention – For those who have Gaucher’s disease or have a family history of the same should seek genetic counseling if they want to start a family.

Type 1 diabetes 

Metabolic disorders weight gainTreatment 

  • Insulin can be administered in the form of an injection or an insulin pen. An insulin pen looks exactly like an ink pen. This can be inserted into the skin directly by the patient.
  • Another method of insulin administration is by using an insulin pump. Here, a small device is attached on the outside of the body and a wire connected to it goes inside the skin.
  • Medications to lower blood pressure levels, lower cholesterol,  and maintain heart health are prescribed to those who have type 1 diabetes.
  • Blood sugar levels are monitored in patients of type 1 diabetes.
  • Physical therapy is important in those who have been diagnosed with type 1 diabetes, as they help in maintaining a steady blood pressure and blood sugar level.

Prevention –  There are certain lifestyle changes that a patient of type 1 diabetes can make, to help make their day-to-day activities easier.

  • Keep a check on your blood sugar, blood pressure and cholesterol levels.
  • Do not smoke. If you do try to quit.
  • Keep a check on your feet.
  • Maintain a healthy weight.
  • Consume clean and healthy foods such as vegetables, fruits, whole grains etc.
  • Do not consume excess amounts of alcohol.
  • Exercise regularly.

Lysosomal storage disorder 

Treatment 

  • Medications to replace missing enzymes are prescribed to those who have been diagnosed with lysosomal storage disease.
  • Medications to remove the excess enzymes stored in the body are prescribed.
  • New stem cells can be acquired after a bone marrow transplant. This treatment method helps in reducing the symptoms of Lysosomal storage disorder.

Prevention – There are no sure shot prevention methods for this condition.

 

Facts

  • Diabetes (type 2) remains undiagnosed in as many as 1/3rd of the all the patients.
  • Type 2 diabetes has no symptoms at first.

Facts

  • Gaucher’s disease is an inherited disease. This disease is caused due to the lack of enzyme glucocerebrosidase in the body.
  • Gaucher’s disease was first described in 1882 by a French doctor named Phillip Gaucher.

Facts

  • 5% of all diabetic patients have type 1 diabetes.
  • Adrenoleukodystrophy is found in 1 in 15,000 boys. This condition is common among men than in women.

Related Conditions

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Dos and Don'ts

Dos
  • Hemochromatosis- Consume a moderate amount of iron-rich foods. Consuming excessive iron can increase the severity of the condition.
  • Diabetes- Consume foods that are low in carbohydrates such as spinach, cucumbers, broccoli etc. as they have high nutrient content and low carbohydrate content.
  • Gaucher’s disease – Get exercise regularly and maintain a healthy diet.
Don'ts
  • Hemochromatosis- Consume large amounts of vitamin C in supplement form, as it can help increase iron absorption in the body.
  • Diabetes- Consume fried, oily, processed or refined foods.
  • Gaucher’s disease -Lead a sedentary lifestyle and have no physical activities.

 

 

 

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Appendix pain: Recent findings on this not-so vestigial organ The exact function of the appendix is still not clear. Some consider it as an organ that once…
Inhale oxygen, exhale worries: The top breathing exercises and how to perform them Performing the breathing exercise is like becoming mindful of how you breathe.  Here is a list of breathing…
EEG
Electroencephalogram – EEG EEG or electroencephalogram is a diagnostic tool used to access the functioning of neurons and brain activity to…
BoneMarrow-Biopsy
Bone Marrow Biopsy Bone marrow biopsy is a diagnostic procedure where a small amount of bone marrow is extracted from hip…
ureteroscopy
Ureteroscopy Ureteroscopy is the diagnostic procedure which is used for the detection of the kidney stones in addition to…
BULIMIA NERVOSA vomiting
Can you get addicted to food? Learn everything about food addiction What is food addiction? How can people get addicted to eating? Is it an unhealthy eating habit or…
hidden benefits walking
9 benefits of walking we bet you didn’t know! Did you know walking can be the miracle pill for eternal youth? Everyone knows walking is good for…
eating disorder anorexia
Eating Disorders: Lifestyle choice or a psychological condition? Is eating disorder just a harmless bad habit? Or does it represent grim psychological disorders? Do you want…
oral hygiene tips
6 shocking consequences of bad oral hygiene (and how to avoid them) Did you know bad breath is not just turning off, but also harms your body in ways you…
gout diet purines
Gout Diet : Get relief from painful joints by eating these foods Are you a victim of this painful condition? Are medications providing only short relief? Find a list of…
Plexus Slim: Is this pink slimming drink the ultimate one-stop fat burner? How effective is Plexus Slim in helping people lose weight? What are its ingredients? Can it be safely…
Coffee Enema: Turn your favorite morning beverage into a powerful colon cleanser The wonders of coffee are not just limited to waking you up every morning. You can now use…
Vitamin b12
Vitamin B12 Test Vitamin b12 is an essential nutrient required for healthy functioning of the nervous system and also development of…
LFT-test
Liver Function Test – LFT LFT or Liver Function Test is a blood test used to determine the levels of hepatic enzymes which…
Glucose-6-Phosphate Dehydrogenase (G6PD) test Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that is found in every cell of the body and it plays…
phenytoin test
Phenytoin test Phenytoin is a drug that is administered mainly to epilepsy patients. The phenytoin blood test measures the level…
carbamazepine
Carbamazepine / Tegretol test The carbamazepine is a drug that is used to treat epilepsy and the carbamazepine test is performed to…
HSV-1_IGG
Herpes Simplex Virus I (HSV)-IgG Test Herpes simplex virus I(HSV)-IgG is an Immunoglobulin protein that acts as an antibody & stays in the blood…
cardioliin antibody iga
Cardiolipin Antibody (ACL) – IgA test Cardiolipins are phospholipids that are constituents of the platelets and the cell membranes. The IgA test detects the…
antiHEV IgM test
Anti hepatitis E virus (Anti HEV) IgM Test Anti HEV IgM test determines the level of the IgM antibodies in the blood, The disease is often…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
fitness routine fun
10 fantastic ways to make your fitness routine more fun! Are you too bored to exercise? Do you avoid gym cause it's too monotonous? Looking for fun and…
alcohol toxic
7 startling facts that will make you quit alcohol today Does drinking really make you friendly and happy? How many calories does a can of cold beer add…