Health and Fitness

Methylmalonic Acid Test Overview A methylmalonic (meth-uhl-muh-LAHN-ick) acid test is a way to test for vitamin B12 deficiency. Your provider uses a sample of your blood or urine (pee) to look for high levels of methylmalonic acid (MMA). When you have low levels of B12 (also called cobalamin) or you aren’t absorbing B12 properly, your body makes more MMA. Why would I need an MMA test? Your provider might order a methylmalonic acid blood test: If you have symptoms of B12 deficiency, like feeling tired or weak, digestive issues (like diarrhea or abdominal pain), numbness or tingling in your hands or feet, or lack of appetite. At birth, to screen for methylmalonic acidemia (also called methylmalonic aciduria), a rare genetic disorder. Providers most often use an MMA urine test to monitor methylmalonic acidemia. It’s important to accurately diagnose B12 deficiency because it can be a sign of health conditions that can lead to nerve damage, like pernicious anemia and diabetes-related neurop...

 Premenstrual syndrome (PMS) Overview Premenstrual syndrome (PMS) has a wide variety of signs and symptoms, including mood swings, tender breasts, food cravings, fatigue, irritability and depression. It's estimated that as many as 3 of every 4 menstruating women have experienced some form of premenstrual syndrome. Symptoms tend to recur in a predictable pattern. But the physical and emotional changes you experience with premenstrual syndrome may vary from just slightly noticeable all the way to intense. Still, you don't have to let these problems control your life. Treatments and lifestyle adjustments can help you reduce or manage the signs and symptoms of premenstrual syndrome. Symptoms The list of potential signs and symptoms for premenstrual syndrome is long, but most women only experience a few of these problems. Emotional and behavioral signs and symptoms Tension or anxiety Depressed mood Crying spells Mood swings and irritability or anger Appetite changes and food craving...

 Irritable Male Syndrome Irritable Male Syndrome (IMS) refers to a condition characterized by fluctuating mood swings, irritability, anxiety, and fatigue in adult men, often attributed to fluctuations in hormone levels, particularly testosterone. While IMS is not yet recognized as a distinct medical diagnosis, its symptoms are widely acknowledged and can significantly impact a man's quality of life. These symptoms can manifest as sudden outbursts of anger, increased sensitivity to stressors, and decreased tolerance for everyday frustrations. Symptoms As the name suggests, irritable male syndrome’s leading symptom is irritability. Depression and lower self-confidence can also be symptoms. It can lead to difficulty concentrating, trouble sleeping, and reduced energy. You may have a harder time losing weight and recovering after exercise. Hormonal changes in men can also cause a lower sex drive or erectile dysfunction. All of these symptoms can affect how you interact with your partne...

Metachromatic Leukodystrophy (Saposinb) overview Metachromatic leukodystrophy (MLD) is a rare, inherited disorder affecting the nervous system due to the buildup of fatty substances called sulfatides. While typically caused by a deficiency in the enzyme arylsulfatase A, MLD can also result from a deficiency in saposin B, a protein that helps arylsulfatase A break down sulfatides. This saposin B deficiency is a rare form of MLD Symptoms Developmental Regression: Loss of previously acquired skills like walking, talking, and cognitive abilities.  Intellectual Decline : Impairment in thinking, memory, and overall cognitive function.  Motor Dysfunction: Difficulty with walking, muscle stiffness (spasticity), and loss of coordination.  Sensory Disturbances : Loss of touch, pain, and temperature sensation.  Seizures: Can occur, particularly in later stages.  Behavioral Changes: Personality changes, irritability, and emotional lability.  Vision and Hearing Loss: A...

Melnick Needles Syndrome Overview Melnick-Needles syndrome (MNS) is a rare genetic disorder of bone characterized by skeletal and craniofacial abnormalities with a specific facial appearance. The skeletal abnormalities include bowing of long bones, s-curved leg bones, ribbon-like ribs and a hardening of the skull base, as well as spine deformities. The typical facial features include prominent, protruding eyes, full cheeks, an extremely small lower jaw and a hairy forehead. The condition may affect many bones of the body causing deformities and often short stature. Regular evaluations as well as surgical treatment may be needed to manage symptoms. MNS is thought to follow an X-linked dominant pattern of inheritance and is usually caused by a new change (mutation) in the FLNA gene. Symptoms MNS is a congenital condition, meaning it is present from birth. However, different members of the same family can have differences in the severity of their symptoms. Due to this variability, individ...

Dental Plaque Overview What is dental plaque? Dental plaque is a sticky film of bacteria that constantly forms on your teeth. It’s normal to produce plaque. But if you don’t remove plaque with routine dental cleanings and daily brushing and flossing, it can cause cavities, gum disease and other oral health issues. What is tooth plaque made of? Plaque contains bacteria, leftover food particles and saliva. When you eat, the bacteria in your mouth feed on food debris (like sugars and carbohydrates). This breaks the food down into a sticky, acidic film — what we know as dental plaque. What does plaque look like on your teeth? Technically, plaque is colorless. But sometimes it can cause tooth discoloration because food particles stick to the plaque. Dental plaque makes your teeth look (and feel) “fuzzy.” If you run your tongue over your teeth and it feels like they’re wearing tiny sweaters, that’s plaque. Tartar vs. plaque Tartar is hardened plaque. If you don’t remove plaque regularly, it ...

 Mayer-Rokitansky-Küster-Hauser Syndrome Overview What is Mayer-Rokitansky-Küster-Hauser syndrome? Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is a rare congenital disorder that can affect women. It’s a condition that causes your vagina and uterus to be missing or undeformed. In most cases, your ovaries and fallopian tubes function normally, and your external genitals are unaffected. This means you’ll have a lower vagina, a vaginal opening, labia (lips of your vagina), a clitoris and pubic hair. Your urethra is not affected by MRKH, so you can pee normally. In certain types of MRKH syndrome, organs like your kidneys and spine may also not form properly. People typically discover they have MRKH syndrome during their teen years when they never have a menstrual period. This is because they don’t have a fully formed uterus and vagina. Other times, sexual intercourse is painful or impossible due to your vaginal canal being short and narrow. Having an underdeveloped or missin...

Maroteaux Lamy Syndrome Overview Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is a rare genetic disorder characterized by complete or partial lack of activity of the enzyme arylsulfatase B (also called N-acetylgalactosamine-4-sulfatase), encoded by the ARSB gene. Deficiency or absence of this enzyme activity leads to the accumulation of complex carbohydrates called glycosaminoglycans (previously known as mucopolysaccharides) in the body. Abnormal accumulation of mucopolysaccharides leads to progressive involvement of multiple organ systems. The symptoms and severity of Maroteaux-Lamy syndrome can vary dramatically from one person to another; some individuals only develop mild symptoms, while others develop severe, even life-threatening complications. Common symptoms can include coarse facial features, corneal clouding, joint abnormalities, various skeletal malformations, an abnormally enlarged liver and/or spleen (hepatosplenomegaly), and hearing loss. Cardiac diseas...

Lupus nephritis Overview Lupus nephritis is a problem that occurs often in people who have systemic lupus erythematosus, also called lupus. Lupus is a disease in which the body's immune system attacks its own cells and organs, called autoimmune disease. Lupus causes the immune system to make proteins called autoantibodies. These proteins attack tissues and organs in the body, including the kidneys. Lupus nephritis occurs when lupus autoantibodies affect parts of the kidneys that filter out waste. This causes swelling and irritation of the kidneys, called inflammation. It might lead to blood in the urine, protein in the urine, high blood pressure, kidneys that don't work well or even kidney failure. Symptoms Signs and symptoms of lupus nephritis include: Blood in the urine. Urine that foams because of too much protein. High blood pressure. Swelling in the legs, ankles or feet and sometimes in the hands and face. High levels of a waste product called creatinine in the blood. Caus...