My doctor talked over my head. We are confused. What is pku?

A rare disease. Pku stands for phenylketonuria, a rare disease in which a baby is born without the ability to properly break down a building block of protein called phenylalanine. People with pku have a build up of phenylalanine, which can cause brain damage. Dietary treatment of pku involves avoiding foods high in phenylalanine. A special infant formula called lofenalac is made for infants with pku.
Blond/slow/seizures. For babies born without newborn screening this is a significant risk. They have blonder hair than they should, develop slowly and eventually have seizures and diminished intellect. Screening tests can pick this up in the newborn period and treatment with special diet can preserve normal growth/development/function.The screening test can be falsely positive so verification tests are very important.

Related Questions

My doctor talked over my head. We are confused. What is coccidiomycosis?

Valley Fever. Coccidioidomycosis aka valley fever is an infection caused by inhaling the microscopic spores of the fungus coccidioides immitis. The lungs are the primary organ of involvement. Try this website for comprehensive information http://www.Valley-fever.Org/. Read more...
Fungus. Coccidioidomycosis is a fungal infection (aka "valley fever") caused by breathing in desert dust that has fungal spores. It usually causes cold symptoms, but in some people, more serious infections can occur. This fungus is found only in the southwestern us (eg AZ, CA, NM) and is sometimes called "cocci". Refer to the University of Arizona's valley fever center for excellence - www.vfce.Arizona.Edu. Read more...

My doctor talked over my head. We are confused. What is neurogenic bladder?

Lacks nerve control. Interruption of nerve pathways between bladder to +/or from brain at any level.Can be congenital as in meningomyelocele/spina bifida or acquired ie traumatic spinal cord injury, MS or stroke.Can be lack of sensory nerve function, where u can't feel bladder or motor when u can't voluntarily control urinary sphincter or bladder.Results in urinary incontinence +/or inability to urinate/retention. Read more...
Neurogenic bladder. This term is used to describe someone who has a bladder brain communication problem.....Like a spinal cord injury pt may not have any feeling or control and needs to be catheterization....This is a type of neurogenic bladder....The nerves used in bladder function just don't work right..... Read more...

My doctor talked over my head. We are confused. What is amniotic infection?

Infection in fluid. It is an infection in the fluid that surrounds the baby before birth. Most commonly it can cause pneumonia at the time of birth that requires the baby to be treated with IV antibiotics. Read more...
Chorioamnionitis. Baby in the womb is floating in the fluid called amniotic fluid and fluid is surrounded by membranes called amnion and chorion. Amniotic infection means that there is infection in these membranes and fluid surrounding your baby. Like any infection it may cause symptoms for mother and potentially may cause infection for your baby. Usually mother needs to be treated and baby may need to be delivered. Read more...
Amniotic infection. An amniotic infection is an infection of the membranes which make up the bag of waters and surround the fetus. This kind of infection usually happens during labor. Another name for it is chorioamnionitis. An infection of the amniotic membranes can affect both the mother and the child. Read more...

My doctor talked over my head. We are confused. What is bacterial vaginosis?

Imbalance. All healthy women have a mix of bacteria & some yeast in the vagina. An imbalance in the vagina, such as change in ph, blood flow, amount of bacteria (these things can be caused by stress, change in hormones, antibiotic use, change in weather, diet, or new sexual partner), then too much of 1 type of bacteria known as "gardnerella" grows. This can cause odor and discharge. It is not an std. Read more...
BV. Simply put, an overgrowth of the normal vaginal bacteria. It is not dangerous, easy to treat, and symptoms are usually vag discharge, itching, and odor. If pregnant, treatment is needed because it can lead to early delivery or early rupture of amniotic membranes. Flagyl is a good treatment in pills or vaginal cream. (pills if you're pregnant). Sorry about your doc. Read more...

My doctor talked over my head. We are confused. What is brain injury?

Brain injury. Brain injury is most commonly the result of trauma involving external force applied to the brain causing a concussion. This involves inflammation and swelling of the tissues (cells) in the brain. When brain cells swell they do not function normally. Which symptoms are caused all depends on where in the brain the cells are located. Other factors that increase brain pressure are bleeding & stroke. Read more...
Damage. To brain tissue usually from trauma. Can be from lack of oxygen also. Have your doctor or his nurse spell it out for you better. Read more...

My doctor talked over my head. We are confused. What is cat scratch disease?

Cat scratch disease. Cat scratch disease is a bacterial infection that can be transmitted by a cat scratch or bite. Usually it will resolve with our treatment. The primary system is swollen lymph nodes. Read more...
Car scratch disease. Cat scratch disease is caused by a bacteria that can be on cat's claws. It will cause swelling of lymph nodes that drain the bite area and fever is also a common symptom. The treatment is antibiotics. Read more...