[Biology Class Notes] on Lysosomal Storage Disease Pdf for EXAM

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. 

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

3. 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.