We all know that health is wealth and it is the source of a happy life. However, certain diseases are genetically part of our system and thus, unavoidable. One such inherited condition is the Lysosomal storage disorder. Two common diseases born out of this disorder are the Krabbe and the Gaucher symptoms.
Patients with Krabbe or Gaucher disease symptoms need immediate medical attention that will arrest any consequential damage to their health.
About Lysosomal Storage Disorders
Lysosomal storage disorders are inherited or genetic disorders caused by lysosomal malfunctions in the body. It causes problems in the metabolism of an individual and affects the functioning of organs due to toxic or fatty deposits in body cells.
Gaucher Disease is the most common form of Lysosomal Storage Disorder.
- Gaucher’s symptoms come in three clinical stages – Stage I, II, and III.
- Stage I does not include neurological symptoms or consequences.
- Stages II and III both include neurological symptoms and even impairment.
- The main cause of Gaucher is the fatty deposits on certain organs.
- It can lead to enlargement and malfunctions of that organ.
- Common organs affected by the Gaucher symptoms are the liver and spleen.
- Gaucher symptoms can also develop in bone tissues.
While Gaucher can cause organ malfunctions, it can also lead to bone weakening and causing fractures if it affects bone tissues.
- A bloated or severely swollen abdomen accompanied by discomfort and pain.
- Weakening of the bones can cause fractures and lack of blood supply will affect its basic structure and strength.
- Low levels of red blood cells will show signs of nose bleeding, constant fatigue, and blood clots.
About Krabbe Disease
Krabbe disease is a genetic disorder or an inherited metabolic disorder. There are alarming levels of fatty deposits in the cells and tissues of the body. These are in the form of waxes and oils. Krabbe symptoms are capable of causing damage to body and brain cells and affecting their functions.
Cause And Symptoms Krabbe Disease
Though the cases are rare, patients diagnosed with Krabbe disease have it in their genetics. It comes as part of family heredity. People with such symptoms will have a high chance of passing it on to their children.
A child detected with Krabbe disease at birth usually has a low life expectancy; it may even be as less as thirteen months from birth. If the symptoms develop later in childhood, they have not lived for more than two years, as per studies and observations.
Medical research organizations and pharmaceutical companies engaged in constant research to find a treatment for conditions like the Krabbe and Gaucher symptoms.
It would be correct to mention at the onset, there is no permanent and decisive medical cure to the Krabbe and Gaucher symptoms. Most treatments and medications are symptomatic and offer short-term relief.
A bone marrow treatment or stem cell transplant is one such procedure that provides relief in the early stages of the Krabbe disease.
For patients with Gaucher symptoms, there is short-term treatment relief available with enzyme replacement therapy. Though this is beneficial, it is not a cure or a long-term benefit for Stages II and III level patients.
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