The World’s Strangest Diseases

Maple Syrup Urine Disease

Maple Syrup Urine Disease is exactly what it sounds like. Victims of this disease have urine that smells like maple syrup due to an imbalance of amino acids. A genetic defect causes a fatal flaw in the manner that three amino acids, leucine, isoleucine, and valine, are broken down.

Maple Syrup Urine Disease comes as a result of a genetic mutation on chromosome 19. Because of the mutated chromosome 19, the three amino acids cannot be broken down. This causes a deadly amount of amino acids in the blood, and the sweet-smelling urine.

Without treatment, Maple Syrup Urine Disease has a poor prognosis. After being born with the disease, a baby will seem relatively normal. However, unless the disease is discovered and treated immediately, the infant has no chance of surviving because of the toxic level of amino acids in the bloodstream.

Symptoms

Urine that smells like maple syrup (quite obviously)
Loss of appetite
Fussiness
Seizures

These symptoms go on for the first few months of an infant’s life until they go into a comatose state or are otherwise treated.

Causes and Statistics

Maple Syrup Urine Disease, being a chromosomal mutation, is caused by genetics. Families with histories of the disease may have offspring that suffer from the same problem.

As mentioned, Maple Syrup Urine Disease is highly rare. Only 1 in 180,000 infants are born with the disease. A high fraction of those come from the mennonites in Pennsylvania and Kentucky. 1 in 176 mennonites in this area have the disease.

Treatment

Maple Syrup Urine Disease, despite its drawbacks, is treatable. Victims must adhere to a very strict diet that consists of foods that don’t contain the three amino acids. If the diet is not started soon enough, brain damage can occur.

In addition to the diet, intravenous fluids can be used to assist in using up the excess amino acids.

Unfortunately, though the prognosis for treated Maple Syrup Urine Disease is fairly good, sickness and stressful situations can cause fluctuations in the amount of an amino acid. Many episodes like this can occur in the life of a Maple Syrup Urine Disease victim, and can result in death.

Alien Hand Syndrome

This disease gives a whole new meaning to the left hand not knowing what the right hand is doing. Victims of this disease have complete control over one hand but no control over the other. This hand seems to take on a mind of its own. A victim may be completely unaware of what is occurring. At times the “alien hand” may bring harm to its owner.

It is a highly rare neurological disorder for which scientists and doctors still don’t entirely understand the reason.

It became more well known due to the movie made about the disease known as “Dr. Strangeglove.” Though it was made for comedic purposes, the illness is very real.

Symptoms

One hand or limb acting beyond the control of its owner
Belief of being possessed
Lack of awareness of movement

Cause

Cases of Alien Hand Syndrome are attributed to brain injury, sometimes as a result of injury during brain surgery. It is associated with three parts of the brain: the frontal lobe, corpus callosum, and occipital and parietal lobes.

A surgery associated with injury in one of these areas is surgery for epilepsy, or frequent seizures. 58-year-old Karen Byrne had surgery for her epilepsy which resulted in Alien Hand Syndrome. She has suffered from the disease since she was 27. Her corpus callosum was cut, resulting in the disease.

She is quoted as saying, “I’d light a cigarette, balance it on an ashtray, and then my left hand would reach forward and stub it out. It would take things out of my handbag and I wouldn’t realize so I would walk away. I lost a lot of things before I realized what was going on.”

Treatment

There is not a lot of treatment for Alien Hand Syndrome because of the lack of understanding of the disease. There have been attempts to manage the hand, which has done little to help the victims of this disease. However, previously mentioned Karen Byrne has said that medication has assisted her in controlling her hand.

Trimethylaminuria

Trimethylaminuria, also known as fish odor syndrome, causes the victim’s urine, sweat, breath, and other bodily fluids to smell like fish. Aside from these symptoms, people with disease seem relatively healthy. It is a rare metabolic disorder.

The strong fish smell is caused by the inability of the body to convert trimethylamine into the compound trimethylamine N-oxide. The compound does not produce the fishy smell, but trimethylamine on its own does, causing the stench.

Symptoms

Smell of fish in bodily fluids
Build up of trimethylamine

Cause

Like Maple Syrup Urine Disease, Trimethylaminuria is caused by genetics in much the same way. Both parents must have a history of the disease for it to occur. The reason for Trimethylaminuria is currently unknown.

Treatment

There is no cure for Trimethylaminuria, but there are ways to improve the life of a victim. Foods containing trimethylamine should be avoided, as well as choline and lecithin. Foods containing this are eggs, legumes, peas, beans, peanuts, among others. Using laxatives can decrease the amount of Trimethylaminuria in the system. Soaps containing a pH similar to that of the skin can also decrease the symptoms.

Hypertrichosis

Hypertrichosis, more commonly known as werewolf syndrome, is a disease that causes excess hair growth. It gets its name from the appearance the victim takes on with the hair. It may occur soon after birth or appear later on in the victim’s life.

There are two kinds of this disease: general and localized. General hypertrichosis covers most or all of the body, and localized covers just one area of the body.

Hypertrichosis is highly rare; only about fifty cases have been documented since the middle ages. The few with this disease have been exploited in the past. They were viewed as freaks in traveling circuses before this was considered unethical.

Symptoms

Excess hair in places where hair does not usually grow
Acne
Hyperplasia of the gums

Cause

The cause for hypertrichosis is currently unknown. It is thought that congenital hypertrichosis is caused by genetics. The passing on of the disease to offspring only requires one parent to carry the gene. In addition to genetics, it can be caused by an allergic reaction to various medications, but symptoms go away after the medication has been discontinued. The disease could also be related to an underlying illness.

Treatment

There is little treatment available for hypertrichosis. The only way to get rid of excess hair is laser hair removal, which can improve the appearance of a victim as well as removing the hair.

Pica

Pica is a disease that causes the victim to desire to eat non-edible items like dirt or paper. It is seen commonly in pregnant women, and more often so, cats.

It is also seen frequently in young children ages 1-6. About 32% of children these ages experience the phenomena. Children and others who experience it may eat sand, hair, paint, clay, among other strange objects.

To diagnose pica, the symptoms must have lasted for at least a month.

Symptoms

Desire to eat strange objects like dirt
iron-deficiency
lead poisoning

Cause

Pica has several causes. As mentioned, pica is often caused by pregnancy. There are multiple triggers; i.e. zinc deficiency and iron deficiency anemia. These conditions are known to cause odd cravings.

Treatment

The first step in treating pica is to treat the underlying condition, if any. If the patient has zinc deficiency, a doctor will treat the patient for this problem, which in turn will solve the problem of pica.

Pica may have something to do with the behaviors and environment of one who experiences this problem. This can be treated with encouragement towards normal behaviors and positive reinforcement. Medications can be used as well.

Sources

http://learn.genetics.utah.edu/content/disorders/singlegene/msud/

http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

http://science.howstuffworks.com/life/inside-the-mind/human-brain/alien-hand.htm

http://www.bbc.co.uk/news/uk-12225163

http://syndrome.org/alien-hand-syndrome/

http://www.rightdiagnosis.com/a/alien_hand_syndrome/intro.htm

http://www.genome.gov/11508983

http://www.sharecare.com/health/hair-diseases-disorders/what-are-the-symptoms-hypertrichosis

http://www.rightdiagnosis.com/h/hypertrichosis/causes.htm

http://www.nlm.nih.gov/medlineplus/ency/article/001538.htm

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