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Some Interesting Diseases submitted 2010.08.06 10:18 PM by Stixs viewed 4907 times

Who hasn't seen something really strange and wondered what it was? I see weird stuff all the time, but you can't exactly Google "that weird thing that makes someone a different color" because you'll get 283545809 results and maybe one will be what you're looking for.

With that in mind, I decided to write up a post with what I think are some fun diseases, and maybe I'll include a picture of a particularly neat one at the end.

So...unlike my previous post (lecture) on viruses, which, admittedly, was boring and dry, this post will have lots of fun diseases and very little science (maybe a buzzword about the cause). Let's go!

Amino Acid Based Diseases - These diseases most commonly involve a missing enzyme somewhere in the body that is otherwise necessary to break down or create a particular Amino Acid (the building blocks of proteins/enzymes). This almost always results in some weird symptom, but rarely results in death because this type of stuff can be managed and supplemented:

1. Alkaptonuria/homogentisuria - word to the wise, anytime you see the addition of 'uria' to the end of a word, it involves urine. Alkaptonuria is a disorder in the metabolism of Tyrosine (an important amino acid in skin pigmentation, Thyroid Gland function, etc). When Tyrosine cannot be properly broken down, it stays in the blood, but is quickly filtered out into your urine in your kidneys. The result? Really dark, very sweet-smelling urine. Fun Fact: This disease is also called Maple Syrup Urine disease. No joke.

2. Albinism - Yes. I'm serious. There IS an explanation for albinism...and it, again, has to do with Tyrosine (seems pretty important, dontcha think?). If your body cannot properly synthesize Tyrosine, or cannot convert it properly into melanin, you become an albino.

3. Phenylketonuria (PKU) - this is a very common disorder in which another Amino Acid (Phenylalanine) cannot be broken down. If it accumulates, it becomes toxic to your brain and you die. It is VERY easy to manage - don't eat food with Phenylalanine. They are all clearly marked with "Phenylketonurics, do not eat!" One thing you should know, however, is that Phenylalanine is the precursor to...you guessed it...Tyrosine. So how do you deal with this? Give the person Tyrosine supplements

4. Cysteinuria - this disease has nothing to do with Tyrosine! Or even defective enzymes! It's your kidneys this time! They cannot properly filter Cysteine, an Amino Acid, and it comes out in your urine

Diabetes - I'm sure you all know about diabetes mostly because of Wilford Brimley, but did you know that there are several types, and two completely unrelated forms, as well?
1. Diabetes Mellitus (Aka the Sugar D's) - there are two forms. Most people know them as Adult and Childhood forms, but to be honest, it is *a little* more complex than than. To explain:
A) Type I - (Aka Childhood) - this type of diabetes results from an autoimmune destruction of the cells in the Pancreas (Specifically, the Islets of Langerhans), which means that no Insulin is made. It's referred to as Childhood diabetes because it starts at a young age, but really, there are flukes in which it kicks in way later. Treatment? Insulin injections and a carefully monitored diet
B) Type II - (Aka Obese/Late Onset/Adult type) - this is the type that you get when you're fat...like really fat. Your body becomes insensitive to the insulin your pancreas happily produces and you start to get high blood sugar, which makes you pee a lot of it out (giving you sweet smelling urine), and your body resorts to using Fat as an energy source rather than sugar, which means you start producing a byproduct known as Ketone Bodies...which at high levels are toxic. One of them is Acetone...the carcinogen...Treatment? Lose weight and eat right.

2. Diabetes Insipidus - this Diabetes occurs when you have a hormonal issue that makes you pee WAY too much. It is related to Nephrogenic Diabetes

3. Nephrogenic Diabetes Insipidus - You pee way too much because your kidneys become insensitive to hormones telling them to calm down

What about all those disease you hear about Jews getting? Aren't they the Chosen Few?

Although we (yes, I am Jewish...go ahead, stereotype away...my nose isn't even big) do get some perks, we also get a lot of diseases that are called "Liposes". For those of you that have taken some Latin, you probably picked up on the root that meant "Fat"

Gold Star

and not the kind I wear...

Anyhow, Liposes are generalized disorders in which there are missing enzymes that are otherwise necessary to break down certain types of Fat. The four most important Liposes are:
1. Niemann-Pick Disease - the missing enzyme is Sphingomyelinase, which causes an accumulation of Sphingomyelin in special blood cells that otherwise "eat" things. This accumulation results in storage and deposition, and a very early death
2. Gaucher's Disease - the missing enzyme is Glucocerebrosidase. The symptoms are similar, but the life expectancy is a few years longer. The spleen and liver will swell, too
3. Tay-Sach's Disease - probably the most famous one. There is a deficiency of Hexosaminidase-A, which results in deposition of these fats in the brain. Death occurs by age 4

So...to those of you that have kids older than the age of 4, congrats, they won't morph into diseased Jewish children.

What's that, you say? You want to hear about that disease that turns you bronze? Ok.

Addison's Disease is a hypofunction of the adrenal glands (the same ones that make adrenaline). The important hormones to worry about are Cortisol (the main Stress hormone in the body) and Aldosterone (the main Sodium and Potassium/Water Balance hormone in the body). They are not secreted in high enough doses, often due to destruction of the adrenal gland, which means that ...(long explanation involving negative feedback inhibition)... the chemical responsible is produced in excess, and because it so closely mimics Melanin (the chemical that turns your skin colors), excess Melanin is produced through connecting metabolic pathways. This melanin is deposited unevenly throughout your body, giving you a bronzed appearance.

What about Jaundice? Ah...that must be the alcoholics in the audience wondering why they have yellow eyes and skin.

Jaundice is when you have excess bilirubin floating around in your bloodstream. This could be because you have too many red blood cells being broken down (get that checked out), or your liver is so backed up from cirrhosis that it was bound to happen anyhow. Anyhow, I like to call this disease Chinaman's disease

If anyone else has any weird diseases they'd like to ask about, I can try to figure out what you're talking about and tell you what I think...but otherwise, this was a list of some of the diseases I find more interesting/have an easier time remembering. Hope you enjoyed it!

Here's Addison's

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