This is part of our House MD Project series.

Click here to read the connection to the episode (spoiler alert!)


On episode 15 of season 1, called Mob Rules, a mobster named Joey arrives at the hospital with a coma, from which he comes in and out to repeatedly. It turns out Joey has ornithine transcarbamylase deficiency, a disease causing him to not being able to digest red meat. On a side note the team also discover he has hepatitis C (an infection transferred either by needle sharing or homosexual activity) and that he has a high estrogen level in his blood, caused from a drug used to suppress libido. The last two facts lead house to the conclusion that he is also gay.

Danger level: High

What is it?

Ornithine transcarbamylase deficiency (OTD) is a rare genetic disorder causing a problem with eating protein.

Who gets it?

OTD is a rare condition – it affects about 1 in every 80,000 people. The condition is genetic, meaning it is passed on in families. It also usually happens to males, due to the mode it is inherited.

Usually the condition becomes apparent in the first few days of life. Sometimes, though (like in the House episode), the condition can manifest later in life.

What causes it?

We live and function thanks to millions of reactions that happen in our body each day. One of those reactions happen inside a cycle of reactions called the urea cycle.

The urea cycle. Drawing by Yikrazuul

The urea cycle is a sequence of reactions that happen in our liver cells. It processes excess nitrogen, which is generated when our body uses protein. In order to get rid of the excess nitrogen, the cycle turns it into urea, which the kidneys can get rid of in our urine.

Each of the steps in the cycle happens through the action of a special machine, called an enzyme. In OTD, one of those enzymes is damaged or missing. Since the body can’t get rid of the excess nitrogen, it is accumulated in the body, turning into a dangerous substance called ammonia.

Ammonia is dangerous for our nervous system and so the condition causes neurological problems. The excess can also damage the liver.

How does it feel?

The condition, as we mentioned above, usually becomes evident in the first days of life. The baby will be lacking energy, vomit, or refuse to eat. Its breathing rate and body temperature will be poorly controlled. Sometimes seizures can occur, and even a coma is possible.

In adults the symptoms aren’t very different. They can include loss of appetite, irritability, heavy or rapid breathing, weakness, vomiting, disorientation, sleepiness, and also coma and death. (Remember that the guy on the House episode had recurrent comas).

How is it discovered?

A blood test is done which shows that the person has too much ammonia in their blood. There’s also a test done on a urine sample that can give a clue to the condition.

Also, a genetic test can find out if the person has the defective gene (although it doesn’t work all the time).

How is it treated?

Since the body can’t handle large amounts of nitrogen (it can’t turn it into urea like it normally should), the treatment includes measures that lower the amount of nitrogen in the body.

This includes not eating lots of nitrogen (protein is very nitrogen-rich. That is why a low-protein diet is subscribed. Remember the mobster in the House episode couldn’t eat steaks?).

Treatment includes saying goodbye to steaks. Photo by FotoosVanRobin

Treatment also includes lots of food and water when a person is ill (since otherwise the body tends to break down its own protein at these times) and some medications that can lower the nitrogen in the body.

What happens after treatment?

The baby’s brain can be damaged from the disease (by the ammonia) if not treated on time. It’s important to catch the disease on time, and then to keep with the strict diet throughout life.

The bottom line – How do I avoid it?

As with other inherited diseases, you can’t really prevent it once the person is born with a defective gene. Parents that know they carry the defective gene and can transfer it to their children can use genetic testing to test if the developing embryo has the defective gene (a process called preimplantation genetic diagnosis).

Related posts:

1. Allergies: All You Wanted to Know (As Seen on House MD)
2. Echoviruses (As Seen on House MD)
3. Wilson Disease – The Return (As Seen on House MD)

Yes, it’s that time of the week – time for another article in the House, M.D. Project. This time it’s episode 6 of season 1, named “The Socratic Method”.

The story in that episode is of Lucille Palmeiro, a woman who supposedly suffers from schizophrenia. At the beginning of the episode she gets something we’ve already discussed – a DVT – meaning deep vein thrombosis, or a blood clot that forms inside the leg veins. The  blood clot than travels from her leg to her lungs, causing a pulmonary embolism. To understand what this all means, you can read our article about DVT here.

After the woman vomits blood, the team suspect a bunch of diseases, including vitamin K deficiency, but discovers a tumor in her liver, which is removed.

Finally Dr. House connects all the dots and finds out the woman has Wilson disease, which we covered here in the past – a condition in which there are high levels of copper in the body. Why does it cause her schizophrenia-like condition? You can read about it in our article about Wilson disease here.

Yes, the post today is short Our old time readers already know about DVT and Wilson’s. For those of you who didn’t have the chance yet, you can read our articles above.

Related posts:

1. Wilson Disease – The Copper Disease That Could Wreck Your Liver and Brain
2. Deep Vein Thrombosis – Clots in Your Veins Which Can Travel To Your Heart and Lungs
3. Allergies: All You Wanted to Know (As Seen on House MD)

Danger Level: Medium 

What is it?

Wilson disease is a genetic disorder that causes copper to accumulate in the liver.

Who gets it?

One person out of 40,00 will have the disease. Since it’s a genetic disorder, the disease runs in families. The chances of someone inheriting Wilson’s from their parents is about 1 in 200 (or 0.5%).

What causes it?

Usually copper is excreted from our body. It does so through a special molecule called ATP7B that transports it out. In Wilson disease, this molecule is defective, which causes copper to accumulate inside the liver instead of going out of the body.

Copper. Imagine that accumulating inside your body. Photo by knitsteel. Some rights reserved. 

With time, copper starts to build up in other parts of the body, such as the brain.

How does it feel?

Wilson can manifest itself mainly in 3 areas:

1. Liver: The accumulation of copper in the liver can cause hepatitis (an inflammation of the liver) or cirrhosis (destruction of the liver by its replacement with fibrous scars and nodules). The damage will start to show in late-teenage years or later (after the copper has accumulated enough to cause damage).

2. Brain: This happens in the early twenties, but also can happen later. People start having movement problems, problems with their coordination and tremor. In some people it will look like Parkinson’s disease. You can see an example of a woman showing these symptoms in this movie:

People can also have memory loss, headaches and seizures.

3. Psychiatric: People with the disease tend to have behavioral problems: Problems with controlling their temper, depression, hyperactivity and others.

How is it discovered?

There are a few ways to diagnose Wilson’s:

1. Blood test: The blood is checked for a molecule called ceruloplasmin, which is low in the disease, since the copper destroys it.

2. Kayser-Fleischer rings: Those are rings seen around the iris in the eye. It usually means that the brain is affected.

Fred, H.; van Dijk, H. Images of Memorable Cases: Case 9, Connexions Web site. http://cnx.org/content/m15007/1.2/, Oct 13, 2007.

3. Urine test: To see if the urine is rich in copper. Urine is collected for 24 hours to check for copper level.

4. Liver biopsy: This is the definitive test – a piece of the liver is taken out to check how much copper there is in it.

How is it treated?

By drugs that bind the copper and release it out of the body, in the urine. One such drug is called penicillamine. Another drug used is zinc, which prevents copper from being absorbed in the gut, and therefore causing it to be released from the body.

What happens after treatment?

People with the disease have to keep taking the medication their whole lives. With treatment, their livers usually get better in a year. The neurologic and psychiatric symptoms usually improve after 6-24 months.

Wilson disease is a genetic disease. Therefore, there is really not much you can do to avoid it. The best thing is going to see a doctor if you suspect having the disease based on the symptoms written above.

Related posts:

1. Wilson Disease – The Return (As Seen on House MD)
2. As Seen on Grey’s Anatomy – Tay-Sachs Disease – Fat Accumulating in The Brain
3. Paget Disease of Bone – Bone Deformity For An Unknown Reason