Lysosomal Storage Disease

Lysosomes are characterized as subcellular, spherical organelles, comprising of hydrolytic enzymes. The primary function of Lysosomes is to shield the cell from being processed as it encompasses the cell membrane. It likewise helps in smooth absorption by changing over the food particles into a less difficult structure by breaking them into minute particles. This organelle is additionally called digestive bags or suicidal bags. A disease which is brought about by the absence of enzymes in the Lysosomes of a cell is called as a Lysosomal storage disease. The enzyme present in the lysosomes assume a significant role in taking out every single undesirable substance present in a cell of the human body. In this article, we will learn about the lysosomal storage disease or the lysosomal storage disorder in detail. We will study about the lysosomal storage disease symptoms, causes of lysosomal storage diseases, and types of lysosomal storage diseases in detail.

Lysosomal Disease

Lysosomal storage diseases are metabolic disorders, which are described by an aggregation of macromolecules. These macromolecules incorporate poisonous materials, undigested particles of the cell, and so forth. These macromolecules get accumulated due to the absence of enzymes in the Lysosome. These disorders can influence numerous pieces of the body including the circulatory framework, the focal sensory system, digestive framework, skin, liver, eyes, bones, spleen, kidneys, and so on. There are in excess of 50 unique sorts of Lysosomal storage diseases. This disorder influences one of every 7,700 births. 

Various Types of Lysosomal Storage Diseases 

Gaucher disease, Fabry disease, Niemann-Pick disease, Pompe disease and Tay-Sachs disease are the different kinds of names of Lysosomal storage diseases. 

Symptoms of the Lysosomal Storage Disease

The symptoms of the lysosomal storage disorder are organ enlargement which includes the heart, spleen, and the liver.

The other symptoms include the following:

  1. Skin rashes

  2. Burning pains in hand and feet

  3. Damage to the Central Nervous System

  4. Lung dysfunction

  5. Muscle weakness

  6. Mental and physical deterioration

  7. Heart failure in infants

  8. Respiratory issues

  9. Depression

  10. Kidney failure

  11. Anaemia

  12. Pain and numbness found in hand and feet

  13. Stiff limbs and not able to walk

  14. Tiredness

  15. Heart failure is followed by strokes and eventually death at an early age.

Causes of Lysosomal Storage Diseases

The causes of lysosomal storage diseases are as follows:

  1. The Absence of Enzymes in The Lysosome. 

The enzymes present in the Lysosomes helps in processing food particles, dead cells, old cells and overwhelming disease-causing microorganisms including protozoa, organisms, bacteria likewise viruses. It is additionally engaged with the ingestion of dead cells alongside other attacking microbes. 

  1. Deficiency of proteins in our body additionally results in Lysosomal storage diseases as it assumes an imperative role in alteration of enzymes in Lysosome. 

  2. The greater part of the Lysosomal storage diseases are acquired in an autosomal recessive manner. 

Diagnosis of Lysosomal Storage Diseases 

Let us now learn about how the lysosomal storage disorders are diagnosed.

It is very hard to analyze this disorder as the side effects fluctuate starting with one kind then onto the next sort of Lysosomal Storage Disorders. There are a couple of analyses completed in a specific research centre. Tissue biopsies are additionally utilized for diagnosis of Lysosomal Storage Disorder in the patient by examining the example of tissue or cells gathered from the patient's body for investigation. Skin fibroblasts test, blood test, amniotic fluid test and pee test are additionally utilized for testing the nearness of this disorder in a patient's examples. 

Treatment of Lysosomal Storage Diseases 

The treatment of lysosomal storage diseases is as follows:

Directly there are no such treatments or cure accessible for Lysosomal Storage Disorder. Examination is still in process. Researchers can't locate the specific cure as there are around 50 to 60 unique sorts of Lysosomal Storage Disorder with various side effects. There are not many treatments which are done to treat these diseases. This treatment incorporates transplantation of bone marrow, the substitution of enzyme and substrate decrease treatment.

FAQ (Frequently Asked Questions)

1. Why Are Lysosomes Called As The Suicide Bags?

Lysosomes are referred to as suicidal bags as it is associated with the reestablishment of cells, the expulsion of dead cells and separating the old cells. It shields the cell from inundating the disease-causing or harmful microorganisms including protozoa, parasites, bacteria, and viruses. It is additionally engaged with the ingestion of dead cells alongside other attacking microbes. 

2. What Are The Examples of The Lysosome Disorder?

The most well-known lysosomal storage disorders include: 

  1. Gaucher disease: Gaucher disease frequently causes spleen and liver growth, blood issues and bone issues. 

  2. Fabry disease: This disorder frequently causes serious consuming agonies in hands and feet and, sometimes, a particular skin rash on the legs. Untreated, this disease can cause kidney disappointment, heart disappointment, strokes and demise before age 50. In spite of the fact that men are bound to have extreme disease, ladies may likewise be genuinely influenced. 

  3. Niemann-Pick disease: Similar to Gaucher disease, Niemann-Pick disease includes organ development, lung dysfunction and focal sensory system harm for certain subtypes. 

  4. Tracker syndrome: This disease is a piece of a gathering of disorders that cause bone and joint distortion just as impedance with typical development. 

  5. Glycogen storage disease II (Pompe disease): Depending on the particular subtype, Pompe disease may cause heart amplification and heart disappointment in newborn children. It might likewise cause respiratory issues and serious muscle shortcoming in grown-ups. 

  6. Tay-Sachs disease: This disorder causes serious and deadly mental and physical weakening, with both a beginning stage and a late-beginning structure.