Lysosomal Storage Disorders Definition, Reason, Symptoms, Treatment & Prevention

Lysosomal Storage Disorders Definition, Reason, Symptoms, Treatment & Prevention

Understanding

Lysosomal storage disorders are a collection of metabolic diseases characterized by the accumulation or accumulation of macromolecules that are not digested or only partially digested due to enzyme deficiency. As a result, there will be a disruption of cell function and clinical abnormalities. The lysosome itself is a cell organ that contains enzymes and functions for digestive work in a cell.

The classification of this disease is:

• glycogen storage disease type II
• mucopolysaccharidoses
• mucolipidoses
• oligosaccharidosis
• lipidoses
• sphingolipidoses
• lysosomal transport disease

Symptoms

Basically, lysosomal storage disorders can be interpreted as a group of diseases. Therefore, the symptoms also vary greatly depending on the disease suffered.

This disease can produce abnormalities in various parts of the body, such as the skull, brain, skin, liver, and central nervous system. All the symptoms that appear can occur due to the inability of the body’s cells to function normally, due to a lack of enzymes.

Some of the symptoms that raise the suspicion of a lysosome storage disorder include:

• dysmorphic features, such as: coarse facies, macroglossia
• bone disorder: dysostosis multiplex
• heart abnormalities: arrhythmia, enlarged heart
• eye abnormalities: corneal cloudiness, cherry-red spot on the macula
• liver and spleen enlargement
• neurological symptoms: developmental disorders, epilepsy, hypotonia, ataxia

Reason

Lysosomal storage disorders are caused by a deficiency or absence of enzymes in lysosomes. This disease is generally an autosomal recessive inherited disease. That is, the condition will show symptoms if a person receives an abnormal gene from both parents.

If a person receives an abnormal gene from one of his parents and a normal gene from the other parent, then that person becomes a carrier of the disease which generally causes no symptoms.

Diagnosis

In determining the diagnosis of lysosomal storage disorders, the doctor will perform anamnesis or collect information directly from the patient accompanied by a physical examination.

Other checks for a thorough check can be done through:

• radiological examination of the skull to look for multiplex dysostosis which is commonly found in lysosomal storage disorders.
• Ultrasound of the abdomen to look for enlargement of the liver and spleen.
• echocardiography to look for heart defects.
• definitive diagnosis to determine the presence of this disease is done through an examination of enzyme activity. The samples examined generally come from white blood cells.