What is the cause of alpha-Mannosidosis?
Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders.
What is beta Mannosidase?
β-Mannosidase is a lysosomal enzyme from the glycosyl hydrolase family 2 that cleaves the single β(1-4)-linked mannose at the nonreducing end of N-glycosylated proteins, and plays an important role in the polysaccharide degradation pathway.
What is mannosidosis?
Alpha-mannosidosis is a rare genetic condition characterized by an inability to properly break down certain groups of complex sugars in the body’s cells. The accumulation of sugars affects many of the body’s organs and systems, including the central nervous system. The effects of the disease can vary significantly.
How common is alpha-mannosidosis?
Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.
What is Sanfilippo Syndrome?
Mucopolysaccaridosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by a lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called ‘heparan sulphate’.
What is Mannanase?
Mannanase is a naturally occurring enzyme that breaks down polysaccharides made from mannose, which is a simple sugar. In many plants, mannanes in seeds are carbohydrate reserves.
What is beta Mannanase?
β-Mannanase is an endo-type enzyme and assists in breaking the β-mannan backbone chains. Therefore, if birds ingest the β-mannanase, it increases their growth performance by cleaving the NSPs links, which then improves nutrient digestibility.
How is Sandhoff disease diagnosed?
Sandhoff disease is commonly diagnosed by testing the activity of the beta-hexosaminidase A and beta-hexosaminidase B enzymes (enzyme assays). People with Sandoff disease have reduced or absent activity of both enzymes. Genetic testing is used to confirm the diagnosis.
Which of the following diseases is caused by a deficiency of sphingomyelinase?
Niemann-Pick disease results from a deficiency of sphingomyelinase that causes accumulation of sphingomyelin in the cells of the reticuloendothelial and central nervous systems. As in Gaucher disease, there is an infantile form of Niemann-Pick disease that is rapidly fatal.
How do I know if my child has Sanfilippo?
One of the most common and initial symptoms of Sanfilippo syndrome is developmental delays, especially speech delays. Children usually begin normal development after their birth, but progress in intellectual, motor and speech milestones starts to slow around age 2.
What are the different types of alpha mannosidosis?
Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
What happens when the alpha mannosidase enzyme is low?
Low levels or inactivity of the alpha-mannosidase enzyme leads to the abnormal accumulation of compounds upstream in the metabolic pathway in the cells of affected individuals with unwanted consequences.
How are hearing aids used to treat alpha mannosidosis?
Treatment of alpha-mannosidosis is symptomatic and supportive. Therapy is directed at preventing and treating the complications of the disorder. Thus, it is important to be pro-active. Antibiotics are used to suppress bacterial infections. Hearing aids and pressure equalizing tubes are used to improve hearing.
