06-22-2014, 11:29 PM
Schindler disease
Named after Detlev Schindler who discovered it, this disease is also known as Kanzaki disease, named after Japanese scientist Hiro Kanzaki who gave additional details about the disease.
It is caused by mutations in the NAGA gene (chromosome 22) which encodes lysosomal enzyme Alpha-N-acetylgalactosaminidase. Deficiency of this enzyme leads to the accumulation of glycoproteins and glycosphingolipids in human body. There are three types of this disease:
- Type I (infantile form) – symptoms start to appear in infants after one year of life. These include weakness, vision loss, seizures, muscle rigidity and decreased ability to move them, discoloration of skin, widening of blood vessels and others.
- Type II (adult form) – is milder than type I disease. It can appear when the person is in his/her 30s and it is characterized by intellectual deterioration and increased coarsening of facial features.
- Type III – is in between the previous two types. Symptoms may be milder like some behavioral problems or delayed speech, but they can also be severe like mental retardation or seizures.
Salla disease
Also known as sialic acid storage disease, this disease is caused by mutations in human gene on chromosome 6 which codes for sialin – membrane protein which usually transports sialic acid out of lysosomes. Mutated version of sialin is unable to do so which leads to accumulation of sialic acid inside the cells.
Salla disease is not as severe as some other lysosomal storage diseases because patients can live well into their 50s and they usually learn to walk or speak normally, even though their intellectual performance is affected. There are various symptoms connected with it, like hypotonia (reduced muscle tone and strength), nystagmus (involuntary eye movements) or cognitive impairment. The production of myelin sheath can also be slowed down or completely stopped. In some severe cases, patients never actually learn to talk or walk.
Named after Detlev Schindler who discovered it, this disease is also known as Kanzaki disease, named after Japanese scientist Hiro Kanzaki who gave additional details about the disease.
It is caused by mutations in the NAGA gene (chromosome 22) which encodes lysosomal enzyme Alpha-N-acetylgalactosaminidase. Deficiency of this enzyme leads to the accumulation of glycoproteins and glycosphingolipids in human body. There are three types of this disease:
- Type I (infantile form) – symptoms start to appear in infants after one year of life. These include weakness, vision loss, seizures, muscle rigidity and decreased ability to move them, discoloration of skin, widening of blood vessels and others.
- Type II (adult form) – is milder than type I disease. It can appear when the person is in his/her 30s and it is characterized by intellectual deterioration and increased coarsening of facial features.
- Type III – is in between the previous two types. Symptoms may be milder like some behavioral problems or delayed speech, but they can also be severe like mental retardation or seizures.
Salla disease
Also known as sialic acid storage disease, this disease is caused by mutations in human gene on chromosome 6 which codes for sialin – membrane protein which usually transports sialic acid out of lysosomes. Mutated version of sialin is unable to do so which leads to accumulation of sialic acid inside the cells.
Salla disease is not as severe as some other lysosomal storage diseases because patients can live well into their 50s and they usually learn to walk or speak normally, even though their intellectual performance is affected. There are various symptoms connected with it, like hypotonia (reduced muscle tone and strength), nystagmus (involuntary eye movements) or cognitive impairment. The production of myelin sheath can also be slowed down or completely stopped. In some severe cases, patients never actually learn to talk or walk.
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