Genetics: Gaucher Disease Type 1


The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes. This abnormality is mainly caused by the slow or sometimes dormant reactivity of the genetic chemical substance called beta-glucocerebrosidase. The latter is normally expected to maintain its activity level in order to be able to reduce the accumulation of fatty substances. In essence, glucosylceramide would often build up in between body cells. If this build up persists for sometime, there is a higher probability that the persoin question may sooner than later be diagnosed with the early symptoms of Gaucher disease. Total rectification of the enzyme abnormality in fibroblasts to those individuals who suffer from the latter condition has been medically evaluated to be possible. This has been carried out in vitro whereby the specific GBA genetic make up is transplanted. In addition, the basic hematopoietic cells deficiency of this important gene can also be medically ratified by retroviral transplant of the necessary genetic cells. Furthermore, the gaucher diseases can be diagnosed through classical means through chemical analysis of the abnormal disposition of the mutated genes.

Disease diagnosis

Gaucher disease type 1 can be recognized by quite a number of symptoms which is usually associated with it. To begin with, there is eminent weakening of the general body structure (Beutler & Grabowski 2001). This may manifest itself through the skeleton which gradually diminishes in strength as well as rigidity. Patients who suffer from this condition may experience a generally frail body similar to fatigue which its cause cannot be explained. Moreover, there are other major body organs which may be diagnosed with Gaucher disease. For instance, spleen and liver are often elongated beyond normal size. This abnormal length of either spleen or liver may lead to a secondary condition which is can now be identified physically. In most cases, patients whose spleen and liver have been stretched beyond the expected size may equally suffer from pot bellies.

Besides, another physical manifestation of Gaucher disease can be observed right in the eye of the patient. There is usually a thick spot on the eye. This deposit is made up of fats which happen to accumulate at one point on the eye. Furthermore, patients suffering from this abnormal condition may have iron deficiency in their blood which leads to anemic condition as well as a demeaning number of platelets. White blood cells in the blood sample of the patient also drop significantly (Tayebi et al. 2001).

Gaucher disease can also be diagnosed classically. A chemical procedure which involves the analysis of any possible deposit from urine which has been sampled for a period of one completer day is conducted. This urine sample is then checked against the presence of gluccocerebroside. The latter can then be recognized by the unusual and rather awkward positioning of the lethal cells of the disease. Moreover, the quantity of a certain chemical component in white blood cells can be used to determine the availability of Gaucher cells. Lastly, a classical application of X-ray or MRI scans can be used to detect the disease (Beutler & Grabowski 2001).


Gaucher disease etiology refers to the various possible causes or origins of the condition. In this regard, it is imperative to note that the main cause of Gaucher disease lies within the recessive behaviour in which the human GBA genetic make up undergo some form of cell damage or mutated. The mutation process is self regenerative. Once this condition prevails in a prospective patient, it implies that the mutated or damaged gene will not be in a position to produce a chemical component called beta-gluccocerebrosidase (Neudorfer et al 1986). This substance has an enzymatic property which makes it suitable as well as capable of emulsifying fatty products which would otherwise accumulate and precipitate the initial conditions of the gaucher disease.

Case study

The medical treatment of Gaucher disease has taken different approaches in the past a few years. Being a genetically related disease, it can be transmitted from the parent to the offspring or within a family tree.

In the treatment of this disease, several proposals have been put forward. For example, complete detachment of the affected organ has been recommended and implemented as well. A case in point is spleen which can be removed from the body of a patient. Better still; the affected elongated liver which may have failed to work can be transplanted. In spite of this possibility of a liver transplant, there are a myriad of ethical issues surrounding this medical practice which spans from who can donate the organ for transplant and whether the donor partner is to be considered for due financial compensation (Neudorfer et al 1986).

In cases where the Gaucher patient has undergone gross blood lose, blood transfusion from a compatible donor has been recommended. This is important because insufficient blood may inevitably lead to anemic condition thereby aggravating the ordinary condition of the disease. Meanwhile, a weak skeleton resulting from gene mutation an be treated by treating the target bones. Besides, the paining joint can be operated upon so as to reduce the level of pain alongside restoring the obsolete and dysfunctional parts of the bone. In many cases, joints and pains which emanate from bones may be exacerbated by other factors like deficient mineral quantity in bones. In such cases, oral suspensions containing nutrients rich in calcium ‘can be administered to patients.

A case study concerning gaucher disease was carried out among different groups in order to establish whether the knowledge on this disease has resulted into new ways of recognizing it. Through testing the genes of each target group namely some ethnic groups among Africans, Jews and Swedish people as well as expectant mothers, the medical experts have been able to explore deeper and identify the risk factors as well as other intrinsically cognitive diagnoses of the gaucher disease. On the same note, substantial knowledge on this disease has resulted into streamlined and better methods of treatment (Lovell et al. 2006). A case in point is the fact that therapeutic processes involving genetic study of the gaucher disease has elicited more pragmatic hope on the better and improved treatment of the disease. Indeed, there is light at the end of the tunnel than before.


In summing up this paper, it is imperative to underscore some key points. Firstly, the gaucher disease originates when there is reduced autonomic damage of the gene which usually produces an enzyme called glucocerebrosidase that emulsifies fatty compounds from the human biological system. Once these fatty substances are not eliminated and consequently accumulate on one spot, it inevitably leads to symptomatic etiology of the gaucher disease. Secondly, the disease can be treated using both modern and classical medical options available like X-ray scans and so on. Finally, enhanced knowledge on the disease has simultaneously led to better methods of diagnosis and treatment.

Reference List

Beutler E and Grabowski G.A (2001). Gaucher disease, in: C.R. Seriver et al. (Eds), Metabolic and Molecular Basis of Inherited Disease, New York: McGraw-Hill.

Lovell B W, Winter B R, Morrissy T R and Weinstein L S (2006). Lovell and Winter’s pediatric orthopedics, Volumes 1-2(6th Ed.). Philadelphia: Lippincot Williams & Wilkins.

Neudorfer O, Giladi N, Elstein D, Abrahamov T et al. (1986). Occurrence of Parkinson’ syndrome in type 1 Gaucher disease, QJM 89: 691-694

Tayebi N, Callahan M, Madike V, Stubblefield B.K, Orvisky E, Krasnewitch D, Fillano J.J and sidransky E (2001). Gaucher Disease and parkinsonian Manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol. Genet Metab. 79: 104-109.