Branched-chain ketonuria, also known as maple syrup urine disorder, is a metabolic disorder caused by the abnormal activity of the Branched-Chain alpha-Keto Acid Dehydrogenase (BCKAD) complex. The enzyme is responsible for the metabolism of branched-chain amino acids. The deficiency of the enzymes leads to the accumulation of the substrate in plasma and urine. The high levels of keto acids lead to serious neurological manifest  Read More

Cold antibody hemolytic anemia (CAHA) is a rare autoimmune disorder characterized by the premature destruction of red blood cells (rbcs) by the body's natural defenses against invading organisms (antibodies). Normally, the red blood cells have a life span of approximately 120 days before they are destroyed by the spleen. In individuals with CAHA, the red blood cells are destroyed prematurely and the rate of production of new cells in the bone  Read More

Thrombotic thrombocytopenic purpura is a rare condition that leads to blood clots to build small blood vessels across the course of the body. Clots like these can result in severe medical issues if they end up blocking blood vessels and restrict the flow of blood to organs like the brain, kidneys and the heart. A protein of ADAMTS13 enzyme in the blood plays a role in blood clotting. An inadequacy in the ADAMTS13  Read More

Systemic mastocytosis (mas-to-sy-TOE-sis) is an uncommon condition in which too many mast cells accumulate in the body. Mast cells are a kind of white blood cell. Mast cells can be found in connective tissues all over your body. Mast cells aid in the efficient functioning of your immune system and, in most cases, help shield you from disease. Excess mast cells accumulate in your skin, bone marrow, digestive tract,  Read More

Idiopathic thrombocytopenic purpura (ITP) is a not infrequent autoimmune bleeding disorder characterized by the abnormally low levels of blood cells called platelets, creating a condition known as thrombocytopenia. Platelets are specialized blood cells that help prevent and stop bleeding by inducing clotting. In many ITP cases, there are no readily apparent causes or underlying disease (idiopathic), but frequently there are associated collagen  Read More