Search results
Results From The WOW.Com Content Network
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
LPL has been shown to be a ligand for LRP2, albeit at a lower affinity than for other receptors; however, most of the LPL-dependent VLDL degradation can be attributed to the LRP2 pathway. [23] In each case, LPL serves as a bridge between receptor and lipoprotein. While LPL is activated by ApoC-II, it is inhibited by ApoCIII. [11]
Acute radiation syndrome (ARS), also known as radiation sickness or radiation poisoning, is a collection of health effects that are caused by being exposed to high amounts of ionizing radiation in a short period of time. [1] Symptoms can start within an hour of exposure, and can last for several months.
For people with brain tumors, radiation can be an effective treatment because chemotherapy is often less effective due to the blood–brain barrier. [ citation needed ] Unfortunately for some patients, as time passes, people who received radiation therapy may begin experiencing deficits in their learning, memory, and spatial information ...
Clinical examination and MRI are often the first steps in an MLD diagnosis. MRI can be indicative of MLD but is not adequate as a confirming test. An ARSA-A enzyme level blood test with a confirming urinary sulfatide test is the best biochemical test for MLD. Urinary sulfatide is important to distinguish between MLD and pseudo-MLD blood results.
High-LET radiation at doses that are below 0.5 Gy show greater relative biological effectiveness compared to low-LET radiation. [63] The acute effects on the CNS, which are associated with increases in cytokines and chemokines, may lead to disruption in the proliferation of stem cells or memory loss that may contribute to other degenerative ...
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
Hartnup disease is a disorder of amino acid transport in the intestine and kidneys; otherwise, the intestine and kidneys function normally, and the effects of the disease occur mainly in the brain and skin. Symptoms may begin in infancy or early childhood, but sometimes they begin as late as early adulthood.