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Urea Cycle Disorder

Urea Cycle Disorder Overview The urea cycle is a filtering process to remove toxic substances from your body and keep other substances that are good for you moving throughout your body. Urea (carbamide) is a substance made by your liver. The urea cycle begins when you eat. Your body breaks down (metabolizes) protein that comes from food in your diet and turns it into amino acids, which are the building blocks of proteins. Amino acids help your body build muscle, transport nutrients and keep your organs functioning. Digestion of proteins leads to waste products that turn into ammonia. Ammonia is toxic to your body. To remove ammonia, enzymes, which are proteins that produce chemical reactions, convert ammonia into urea. The following amino acids are in urea, along with ammonia: Arginine. Ornithine. Citrulline. Enzymes move urea through your blood and kidneys. The final step of the urea process is to pass (excrete) urea from your body in your pee (urine). What are the types of urea cycle...
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HPV infection

HPV infection Overview HPV infection is a viral infection. There are more than 100 types of human papillomavirus (HPV). Some types of HPV infection cause skin growths called warts and some types of HPV infection can cause cancer. Most HPV infections don't lead to cancer. But some types of genital HPV can cause cancer of the lower part of the uterus that connects to the vagina, called the cervix. Other types of cancers have been linked to HPV infection. These include cancers of the anus, penis, vagina, vulva and back of the throat. Cancer at the back of the throat is called oropharyngeal cancer. These infections are often passed through sex or through other skin-to-skin contact. Vaccines can help protect against the strains of HPV most likely to cause genital warts or cervical cancer. Symptoms Usually, the body's immune system defeats an HPV infection before it creates warts. Different types of HPV produce different warts, including: Genital warts. Some appear flat. Others look...
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Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy Overview Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. Symptoms of Ullrich congenital muscular dystrophy The first signs of UCMD may be seen at birth or are usually evident within the first year of life. These include poor head control and delays in reaching motor milestones such as sitting unaided, crawling, or walking. Failure to gain weight and grow at the expected rate are also often early symptoms. The severity of symptoms at onset and progression varies amongst those affected and depends on the specific change in the COL6 genes. Initial symptoms could be subtle and go unnoticed, and the diagnosis may not be made until infancy or childhood. Muscle weakness Muscle weakness is often noticeable soon after birth. Various muscle groups are affected, including the...
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Ulnar clinodactyly syndrome

Ulnar clinodactyly syndrome Overview Clinodactyly is a minor bone malformation where your finger curves at the joint closest to your nail and bends toward your other fingers like a hook. It most often affects your fifth digit (pinky finger), but it can happen to any finger or toe. The curve is the result of your finger bone growing in a different shape than it should. It may be present at birth or it may happen as a result of injury to a growing finger in childhood. It’s normal for fingers to curve at an angle less than 10 degrees. Clinodactyly specifically refers to finger curves at angles greater than 10 degrees. Symptoms Symptoms of clinodactyly appear in a finger on your hand. The condition can be present at birth (congenital) even if symptoms aren’t noticeable until early childhood when the bones grow and start to mature. Clinodactyly could appear on one or both of your hands and on any one finger. The condition also affects toes. Symptoms of clinodactyly include: Finger curves li...
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Tyrosinemia

Tyrosinemia Overview In tyrosinemia, the body doesn't have an enzyme it needs [called fumarylacetoacetate hydrolase (FAH)] to metabolize tyrosine. Metabolism is a process in which our bodies break down substances as we use them for energy; in this case tyrosine. Tyrosine is an amino acid that is found in most proteins. When people with tyrosinemia break down protein, abnormal toxic break down products of tyrosine build up in their bodies. This causes progressive damage to the liver and kidneys, but mainly the liver. This is because the liver is normally the primary place tyrosine is metabolized. Tyrosinemia is hereditary; in order to have the disease, a child must get a mutation in the gene for tyrosinemia from each parent. In families where both parents carry a mutation, there is a one in four risk that a child will have tyrosinemia. There is now a genetic test available, so that couples at high risk of being carriers can determine their risk of having a child with tyrosinemia. Th...
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Tuberous sclerosis

Tuberous sclerosis Overview Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancer. Noncancerous tumors, also called benign tumors, are overgrowths of cells and tissue that are not expected. Symptoms vary widely, depending on where the growths develop and how big they get. Tuberous sclerosis is often first found during infancy or childhood. Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all. Sometimes tuberous sclerosis causes serious disabilities. There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can't be predicted. But treatments are available to manage symptoms. Symptoms Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes...
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Trisomy 18

Trisomy 18 Overview Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges. Some common things that can be caused by trisomy 18 include: Heart problems Kidney problems Clenched hands Slow growth during pregnancy Cleft lip and / or palate Trisomy 18 also causes challenges after birth, such as: Breathing problems Severe intellectual disability Feeding problems Seizures Hearing problems Who does Edwards syndrome (trisomy 18) affect? Edwards syndrome (trisomy 18) can affect anyone. The condition occurs when a person has an extra copy of chromosome 18, which is random and unpredictable. The likelihood that a parent will have a child with Edwards syndrome (trisomy 18) increases with maternal age at the time of pregnancy. If a parent had a child with Edwards syndrome (trisomy 18) and becomes pregnant again, it’s un...
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