06-21-2014, 10:49 PM
Lysosomal Storage Diseases
Tay-Sachs disease
This disease is caused by mutations on HEXA gene on our chromosome 15. HEXA gene encodes for one part of lysosomal enzyme beta-N-acetylhexosaminidase A. There are more than 100 mutations identified which can alter this protein. Due to this, it is also known as hexosaminidase A deficiency, but also as GM2 gangliosidosis because this enzyme is responsible for degradation of gangliosides (fatty acid derivatives). When it is mutated, it is unable to degrade them, resulting in the accumulation of gangliosides in nerve cells.
Tay-Sachs disease is autosomal recessive disorder, affecting mental and physical abilities by causing deterioration of nerve cells. Since the enzyme is active during the early age, symptoms usually appear during the first year of life and patients usually die by the age of four.
Gaucher disease
This disease is the most common form of lysosomal storage diseases and it is also characterized by the accumulation of fatty acids. It is also the form of sphingolipidosis because it affects the metabolism of sphingolipids.
The difference is that Gaucher disease is caused by the mutations on chromosome 1, which results in deficiency of the enzyme glucocerebrosidase and the accumulation of glucosylceramides, mostly in white blood cells. They can also accumulate in places like brain, bone marrow, liver, spleen, kidneys and lungs. Due to this, Gaucher disease can cause various problems in the body, starting from fatigue and anemia to severe neurologic complications, swelling of lymph nodes, skeletal disorders, bone lesions, liver malfunction, enlarged spleen and liver, etc.
There are three types of Gaucher disease:
- Type I – the most common form of the disease. It does not affect the brain, which is why it is called non-neuropathic type. Symptoms are usually bone disease, skeletal weakness and enlarged liver and spleen (spleen can even rupture in some occasions and the disease even worse). All of these can cause anemia, thrombocytopenia and leukopenia. Patients can sometimes live well into adulthood.
- Type II – affects the brain and it is much more severe than type I. Symptoms are again enlarged liver and spleen, but also brain damage, seizures, spasticity, eye movement disorders, etc. Patients usually die by the age of two.
- Type III – also affects the brain, but it is less damaging than type II. It doesn’t have to start in the childhood, and patients can sometimes reach their adulthood years. Symptoms are once again enlarged liver and spleen, seizures, eye movement disorders, but also poor coordination, anemia and other blood disorders, respiratory problems, etc.
Tay-Sachs disease
This disease is caused by mutations on HEXA gene on our chromosome 15. HEXA gene encodes for one part of lysosomal enzyme beta-N-acetylhexosaminidase A. There are more than 100 mutations identified which can alter this protein. Due to this, it is also known as hexosaminidase A deficiency, but also as GM2 gangliosidosis because this enzyme is responsible for degradation of gangliosides (fatty acid derivatives). When it is mutated, it is unable to degrade them, resulting in the accumulation of gangliosides in nerve cells.
Tay-Sachs disease is autosomal recessive disorder, affecting mental and physical abilities by causing deterioration of nerve cells. Since the enzyme is active during the early age, symptoms usually appear during the first year of life and patients usually die by the age of four.
Gaucher disease
This disease is the most common form of lysosomal storage diseases and it is also characterized by the accumulation of fatty acids. It is also the form of sphingolipidosis because it affects the metabolism of sphingolipids.
The difference is that Gaucher disease is caused by the mutations on chromosome 1, which results in deficiency of the enzyme glucocerebrosidase and the accumulation of glucosylceramides, mostly in white blood cells. They can also accumulate in places like brain, bone marrow, liver, spleen, kidneys and lungs. Due to this, Gaucher disease can cause various problems in the body, starting from fatigue and anemia to severe neurologic complications, swelling of lymph nodes, skeletal disorders, bone lesions, liver malfunction, enlarged spleen and liver, etc.
There are three types of Gaucher disease:
- Type I – the most common form of the disease. It does not affect the brain, which is why it is called non-neuropathic type. Symptoms are usually bone disease, skeletal weakness and enlarged liver and spleen (spleen can even rupture in some occasions and the disease even worse). All of these can cause anemia, thrombocytopenia and leukopenia. Patients can sometimes live well into adulthood.
- Type II – affects the brain and it is much more severe than type I. Symptoms are again enlarged liver and spleen, but also brain damage, seizures, spasticity, eye movement disorders, etc. Patients usually die by the age of two.
- Type III – also affects the brain, but it is less damaging than type II. It doesn’t have to start in the childhood, and patients can sometimes reach their adulthood years. Symptoms are once again enlarged liver and spleen, seizures, eye movement disorders, but also poor coordination, anemia and other blood disorders, respiratory problems, etc.
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