What is Sialidosis?

Sialidosis is a rare inherited pathological condition which is characterize by metabolic disorder and is due to lack of neuraminidase enzyme . This enzyme is also known by the name of sialidase . As a result of lack of this enzyme , there is accruement of excess adipose tissue and carbohydrates in the tissues of the body to include the mastermind , spinal electric cord , and other vital organs of the dead body .

It is basically a lysosomal reposition disorderliness in which the lysosomes present in the cubicle are not able to break up the adipose tissue , carbohydrate , and sugars in the body and then they begin to step by step hoard within the body attaining toxic point causing conditions like Sialidosis .

Sialidosis is basically of two type , namely typewrite I and type II . Type I Sialidosis is a milder class of Sialidosis and the symptom of this eccentric of Sialidosis normally submit themselves by the second decade of life of the affected individual . The case II of Sialidosis is the more grievous soma of this disorderliness with symptoms usually surfacing in former infancy or at maximum early puerility with characteristic red macules , distinct facial feature , cadaverous deformities , and in some cases cognitive impairment as well due to Sialidosis .

This condition is inherited as an autosomal recessive trait mean that two copies of the faulty factor from each parent is involve for the child to develop Sialidosis .

What are the Causes of Sialidosis?

The main cause of Sialidosis is chromosomal mutation of factor NEU1 . This gene is present in the shortsighted arm of chromosome 6 . The NEU1 cistron is responsible for for output of an enzyme called neuraminidase . The function of this enzyme is to facilitate lysosome to split down complex chemical compound like fats , carbohydrate , and sugars .

Due to this faulty factor , there is want of the neuraminidase enzyme resulting in the lysosomes not being capable to break down the complex fats and saccharide , which result in them being accumulated in the tissues of the eubstance to admit the brain , spinal corduroy , and other important reed organ of the body .

This abnormal accumulation reaches a floor of being toxic result in condition like Sialidosis . As stated above , this is an autosomal recessive trait meaning that two copy of the faulty gene one from each parent is need for development of Sialidosis .

What are the Symptoms of Sialidosis?

There are two type of Sialidosis which are type I and typecast II .

Type I Sialidosis is milder form of the disorderliness and symptoms of this character of Sialidosis start to surface by the 2nd ten of life-time of the stirred soul . The characteristic presenting feature article of this eccentric of Sialidosis are sudden nonvoluntary muscle contractions , ruby-red colored macules in the heart , and other neurologic symptoms .

Type II of Sialidosis is the more severe form and the symptoms start to coat in early infancy or childhood and is again characterized by ruby-red bleached macules in the eyes , distinct facial feature , skeletal deformity , and in some cases cognitive handicap .

How is Sialidosis Diagnosed?

The diagnosis of Sialidosis can be made with the distinct feature that this conditions presents with . If it is type I then the symptoms will appear much later in life whereas symptoms of case II Sialidosis will appear much sooner in infancy .

An enzyme check may be done to confirm the diagnosing of Sialidosis as it will clearly show deficiency of the enzyme neuraminidase . A urinalysis may also be done which will show increased levels of oligosaccharide which is yet another denotation of Sialidosis . to boot , a genetic examination can be done which will clearly show mutation in gene NEU1 and corroborate the diagnosis of Sialidosis .

What is the Treatment for Sialidosis?

There is no clear edit treatment for Sialidosis . The treatment is in the main diagnostic and supportive . For neurological symptom like seizures medications can be used to control them . antispasmodic can be ease up to curb nonvoluntary muscle spasm . Surgery may be command to treat some of the musculoskeletal disfigurement .

Additionally , words and occupational therapy may be required to treat some of the cognitive impairment and make the affected role as sovereign as potential despite suffering from Sialidosis . It is extremely recommended that people who have a folk history of Sialidosis or a sept penis suffering from Sialidosis go through genetic counseling as it is quite beneficial in find out their chances of having a baby with a condition like Sialidosis .

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