Health and Fitness

Maple Syrup Urine Disease Overview Maple syrup urine disease (MSUD) is a lifelong and potentially life-threatening inherited metabolic disorder. Metabolic disorders cause problems with how your body breaks down food into the tiny components it uses for energy. With MSUD, your body has trouble breaking down amino acids, the building blocks of protein. People with MSUD have trouble breaking down three amino acids in particular: Leucine. Isoleucine. Valine. If you’re born with maple syrup urine disease, these amino acids can build up and become toxic (poisonous) in your body. The buildup causes the telltale sign of MSUD, urine (pee), earwax or sweat that smells like maple syrup or burnt sugar. Seek immediate treatment if you see signs of MSUD in your child. Without prompt care, MSUD can cause serious complications, including developmental delays and even death. Types of maple syrup urine disease (MSUD) The four main types of MSUD are: Classic: Classic maple syrup urine disease is the mos...

 Lysosomal Acid Lipase Deficiency Overview Lysosomal acid lipase deficiency is a subset of lysosomal acid lipase deficiency (LALD). There are two types of this disease, infantile LALD and late-onset LALD. Infantile LALD presents early in infancy and is less common and more severe than late-onset LALD. Late-onset LALD generally presents in mid-childhood. Both conditions are characterized by a deficiency in a specific enzyme, which results in problems with lipid metabolism, or the body’s ability to properly break down and utilize certain fats. When these fats are not broken down and utilized, they accumulate in many of the body’s cells, tissues, and organs — eventually leading to signs of disease. LALD is one of about 50 diseases classified as lysosomal storage disorders (LSD). Lysosomes contain specific proteins (enzymes) that are responsible for breaking down and recycling molecules such as fats and sugars. Individuals with a lysosomal storage disorder lack one of these necessary ...

Localised scleroderma Overview Scleroderma (sklair-oh-DUR-muh), also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. Scleroderma also may cause problems in the blood vessels, internal organs and digestive tract. Scleroderma is often categorized as limited or diffuse, which refers only to the degree of skin involvement. Both types can involve any of the other vascular or organ symptoms that are part of the disease. Localized scleroderma, also known as morphea, affects only the skin. While there is no cure for scleroderma, treatments can ease symptoms, slow progression and improve quality of life. Symptoms Scleroderma symptoms vary from person to person, depending on which parts of the body are affected. Skin-related symptoms Nearly everyone who has scleroderma experiences hardening and tightening of the skin. The first parts of the body to be affected are usually the fingers, hands, feet and face. In some people, the skin t...

Locked-in Syndrome (LiS) Overview Locked-in syndrome (LiS) is a rare neurological disorder characterized by paralysis of voluntary muscles, except for those that control your vertical eye (up and down) movements. People with locked-in syndrome are conscious, alert and have their usual cognitive abilities (thinking and reasoning), but they’re unable to show facial expressions, speak or move. People with LiS can hear and typically communicate through purposeful eye movements, blinking or both. They can also use assistive technologies to communicate. Locked-in syndrome is caused by damage to a specific part of your brainstem known as the pons. Types of locked-in syndrome Locked-in syndrome (LiS) has three main types, or forms, including: The classical form: In this type of LiS, you have total immobility (lack of voluntary movement) but can move your eyes vertically (up and down), blink and maintain your usual cognitive abilities. You can also hear. The incomplete form: This type of LiS i...

Listeriosis Overview Listeriosis is a foodborne illness. The germ Listeria monocytogenes causes listeriosis. Listeria monocytogenes is commonly found in nature, especially in soil, groundwater, rotting vegetation and animal feces (poop). Most people get listeriosis from eating contaminated foods. The listeriosis incubation period (the time when you first get infected and when you first show symptoms) varies. It usually takes one to two weeks, but it can be as short as a couple of days or as long as three months. Other names for listeriosis include L. monocytogenes and listeria. Contaminated foods are the most common cause of listeriosis infections. The most common foods that cause listeriosis include: Hot dogs. Deli meats. Fresh vegetables. Fresh fruits, especially melons. Unpasteurized dairy products (sterilized to kill bacteria). These foods have the highest risk of L. monocytogenes contamination. However, listeriosis can affect almost any improperly handled or prepared food. The bac...

Lissencephaly Overview Lissencephaly (pronounced li-suhn-SEH-fuh-lee), which means “smooth brain,” is a spectrum of severe and rare brain malformations (abnormally shaped) that affects developing fetuses. Gyri are the folds or bumps in your brain, and sulci are the indentations or grooves. In lissencephaly, the lack of normal development of brain gyri and sulci makes an affected baby’s brain appear smooth. Gyri and sulci are important because they separate brain regions and increase your brain's surface area and cognitive ability. There are more than 20 types of lissencephaly. Most of them are separated into two main categories: classic lissencephaly (Type 1) and cobblestone lissencephaly (Type 2). Each category shares similar symptoms but different genetic mutations. Lissencephaly can occur on its own (isolated lissencephaly) or as part of certain syndromes, such as Miller-Dieker syndrome and Walker-Warburg syndrome. Children with lissencephaly often have significant developmental...

Liposarcoma Overview Liposarcoma is a rare type of cancer that starts in the fat cells. It most often begins as a growth of cells in the belly or in the arm and leg muscles. But liposarcoma can begin in the fat cells anywhere in the body. Liposarcoma happens most often in older adults, but it can happen at any age. Liposarcoma treatment usually involves surgery to remove the cancer. Other treatments, such as radiation therapy, also may be used. Liposarcoma is a type of cancer called a soft tissue sarcoma. These cancers happen in the body's connective tissues. There are many types of soft tissue sarcoma. Liposarcoma Symptoms When they first form, liposarcomas often don’t cause any symptoms and frequently go unnoticed. They may eventually grow large enough to push other tissue aside and cause symptoms. The liposarcoma symptoms you may experience depend on the size of the tumor and where it forms: Abdominal symptoms: You may experience constipation, feeling full sooner than usual whe...

Collagen Type VI-Related Disorders Overview Collagen type VI-related disorders encompass two genetic muscle disorders formerly thought to be separate entities: Bethlem myopathy and Ullrich congenital muscular dystrophy. Researchers have determined that these disorders represent a disease spectrum associated with disruptions or changes (mutations) in genes that contain instructions to produce (encode) collagen type VI proteins. Bethlem myopathy represents the milder form of this spectrum and Ullrich congenital muscular dystrophy represents the severe end. Common symptoms include progressive muscle weakness and degeneration (atrophy) and abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers and tendons cause deformity and restrict the movement of an affected area (contractures). Both Bethlem myopathy and Ullrich CMD can be inherited as autosomal dominant or autosomal recessive traits. Symptoms The symptoms, severity, and age of onset of collage...