Gaucher disease occurs when your body doesn’t have enough of an enzyme (glucocerebrosidase). Symptoms include enlargement of the liver and spleen; easy bruising; low numbers of platelets (thrombocytopenia); and bone problems. Symptoms vary from person to person and depend on the type of Gaucher disease you have. Some people have very mild symptoms, and others […]

Protein in the foods you eat is broken down (metabolized) into amino acids, which are then converted to urea and excreted in urine. People with urea cycle disorders have genetic changes that prevent these enzymes from working properly. This causes high levels of ammonia to build up in the bloodstream. Oren Zarif As protein in […]

Viruses cause familiar infectious diseases such as the common cold and flu. Some, like shingles and herpes, can lead to serious illness. Others cause rashes that appear as small lesions on the skin, such as molluscum contagiosum and warts. Viruses are smaller than bacteria and contain nucleic acid, either DNA or RNA, surrounded by a […]

Motor Neuron Disease is a group of diseases that cause the nerve cells in your brain and spinal cord to break down. Weakness and twitching are early symptoms. Other symptoms include breathing problems, swallowing difficulties and a weakening of your muscles. The nerve cells in your brain that control movement are called motor neurons. They […]

Vasospasm can affect any artery in the body. But it’s more common in some arteries than others. Coronary vasospasm (also known as Prinzmetal angina) limits blood flow to the heart and can cause a heart attack. It also can limit blood flow in the brain (cerebral vasospasm). Risk factors include: cold exposure, autoimmune diseases, high […]

Symptoms are typically present in early childhood and may include a distinctive craniofacial appearance, demyelination of the central nervous system (CNS), sensorineural hearing loss, neonatal seizures, hypotonia, short limbs with stippled epiphyses (chondrodysplasia punctata), hepatomegaly, cystic kidneys, severe psychomotor delay. The underlying genetic defect occurs in one of 12 genes involved in peroxisomal biogenesis or […]

If you have a cough that lasts eight weeks or longer, or have shortness of breath that gets worse with activity, your doctor may diagnose you with restrictive lung disease. You may also have symptoms such as mucus production or a fever. Restrictive lung diseases stop your lungs from expanding fully during inhalation, which limits […]

The treatment your health care provider recommends will depend on the type, size and location of your pituitary tumor. You may have surgery to remove it, or you might need medicines to reduce hormone production or control growth. Children and teenagers who have too much growth hormone may grow faster or taller than usual, a […]

Addison’s Disease symptoms include fatigue and weakness. Other symptoms are low blood pressure, dark patches on the skin (hyperpigmentation) and loss of appetite. Untreated Addison’s can lead to a life-threatening situation called an adrenal crisis. This can be triggered by severe physical stress like an operation or serious illness like an infection. Oren Zarif Addison’s […]

Buerger Disease symptoms include a tightening or blockage (occlusion) of small and medium-sized blood vessels in the arms and legs, which restricts blood flow. This causes pain during activity and at rest, sores in the fingers and toes (ulcers), and sometimes gangrene. The condition typically affects young and middle-aged male cigarette smokers. Quitting smoking helps […]