Gaucher ’s disease is also known as Glucosylceramidase deficiency and Glucocerebrosidase insufficiency .
Gaucher ’s disease is a raregenetic upset . Gaucher ’s disease is a consideration in which glucocerebroside is form in the bones , lungs , liver , and spleen ; however brainiac may also get strike in some rare cases . The formation of glucocerebroside restricts the organ to function properly .
Gaucher ’s disease is a condition in which some harmful fatty material builds up to excessive levels in lung , bone gist , liver , quick temper and , less frequently brainiac . The assemblage of these fatty substances in tissues affects the performance of the body ensue in enlargement of organ and pain in the os .
Gaucher ’s disease is a condition which occurs due to deficiency of the enzyme glucocerebrosidase that drive the physical structure to imprint some harmful fatty substance called glucocerebroside . Therefore this disease sometimes is also known as glucocerebrosidase deficiency .
Gaucher ’s disease may be treated with enzyme replacement and other therapy .
symptom of Gaucher ’s disease worsen during maternity . However , despite this , most of the affected women will have a successful pregnancy . It is not clear though whether enzyme surrogate therapy is advisable during pregnancy .
Types of Gaucher’s Disease or Glucosylceramidase Deficiency
Gaucher’s Disease or Glucosylceramidase Deficiency Is Broadly Classified Into Three Types:
Epidemiology of Gaucher’s Disease or Glucosylceramidase Deficiency
In general population , the count of multitude being affected with Gaucher ’s disease is reckon to be 1 in 50,000 to 1 in 100,000 mortal . Gaucher ’s disease may affect at any age . Gaucher ’s disease is frequently seen in Judaic people of Central and Eastern European stock .
In United States , Gaucher ’s disease is more commonly seen in Jewish multitude of Eastern European origin . The frequency rate of carrier of Gaucher ’s disease in these people is about 1 per 15 population and disease frequency is about 1 per 855 universe . It is very rarely seen in the non - Jewish population . The estimated frequency charge per unit of Gaucher ’s disease in non - Jewish population is about 1 per 40,000 universe .
90 pct of cases are recording machine as case 1 Gaucher ’s disease . Type 1 Gaucher ’s disease is normally diagnosed at the age of 30 .
Causes and Risk Factors of Gaucher’s Disease or Glucosylceramidase Deficiency
Gaucher ’s disease is usually do due to the deficiency of enzyme glucocerebrosidase . Enzyme glucocerebrosidase helps in break down the fat person stuff know as glucocerebrosides . scarceness of these enzyme results in the formation of fatty materials in pearl marrow,&brainand other organs .
Gaucher ’s disease is an genetic disease , which passes on to the child if both the parents are carrier of Gaucher ’s factor . This pattern of inheritance is known as autosomal recessive allele . Although a nestling explicate Gaucher ’s disease only when both the parent are carrier of a Gaucher ’s gene , there are very less baby found to suffer with it . In case of both the parents being carrier of the Gaucher ’s gene , there are only 25 percent chance in a child to develop Gaucher ’s disease .
Signs and Symptoms of Gaucher’s Disease or Glucosylceramidase Deficiency
symptom of Gaucher ’s disease alter base on different character .
Symptoms of Type 1 Gaucher’s Disease or Glucosylceramidase Deficiency May Include:
Symptoms of Type 2 Gaucher’s Disease or Glucosylceramidase Deficiency May Include:
Symptoms of Type 3 Gaucher’s Disease or Glucosylceramidase Deficiency May Include:
Treatment for Gaucher’s Disease or Glucosylceramidase Deficiency
There is no proper therapeutic available for the intervention of type 2 Gaucher ’s disease . Patients suffering with type 1 Gaucher ’s disease may not take to be treat due to just meek symptoms .
Given Below Are The Treatments And Procedures That Are Usually Used To Treat Type 1 And Type 3 Gaucher’s Disease or Glucosylceramidase Deficiency:
Investigations for Gaucher’s Disease or Glucosylceramidase Deficiency
A complete subjective and forcible examination is performed to name Gaucher ’s disease . Signs likehearing exit , heart problems , eye movement problem , bone change , lung disease and swelling in spleen or liver may be check .
