Overview In glanzmann thrombasthenia (glanzmann disease), there is a failure of primary platelet aggregation with ADP or collagen due to inherited deficiency of, two of platelet membrane glycoprotein’s. In this disease there is no fibrinogen bridging occurs between platelets, as a result, bleeding time is significantly prolonged. In other words this disorder is condition in which blood doesn’t clot properly….
Introduction Trimethylaminuria or commonly known as Fish Odour Syndrome is a metabolic disorder which is inherited and it creates a nasty, offensive body odor which resembles a rotting fish. This happens when a protein called trimethylamine(TMA) in our urine, sweat and breath gets excreted in excess. It is also known as fish malodor syndrome. This happens due to the lack…
Introduction It is an inherited disease which is autosomal recessive. It damages the nervous system which is progressive. Initially it disturbs the gait coordination. It then leads to scoliosis,various heart disease and diabetes. It really does not affect the person’s cognitive function. The disease occurs slowly and becomes progressive. It sometimes leads to immobility. This happens due to genetic mutation…
Goodpasture Syndrome is a rare disorder but considered as a serious disorder that affects lungs as well as kidneys. It occurs when immune system of the person mistakenly produces antibodies against collagen (protein that helps to form the connective tissue) in the kidneys and lungs. It mostly affects young men. It can affect the people in the age group of…