I've addressed the "what does this mean" in a
different post, but I thought it was time to expand it.
I've often joked that my kiddo couldn't have been born to a more perfect family: I have a strong medical background, and it didn't take long before
I was the one doing the educating during doctor's visits. However, the whole first year was incredibly intimidating, and much of that was all the new terminology that we all had to absorb. So here's some of those terms, and what this whole deficiency is (and the why and the how) translated into Regular English.
Glucoamylase Deficiency, Pancreatic Glucoamylase Deficiency
Both of those terms effectively mean the same thing. To really understand what it is, you need to understand some really basic anatomy. Everyone has a pancreas. It hangs out with the rest of the parts that my children affectionately call our Guts. Its BFF is the liver. They are so close, in fact, that they are practically attached to each other.
Anyway, the pancreas' main goal in life is to make dry heaves the most horrible-part of the influenza experience. See, that's when we all realize that there is this totally nasty stuff called Bile in our Guts. Terrible, terrible stuff when one has the flu. Crucial stuff if we ever want to eat food. Bile is just a whole bunch of different enzymes. The pancreas makes it, and sends it on down to hang out in the gall bladder until it's needed.
What are enzymes?
Well, when you were a kid did you ever lick a lollypop or eat half a carton of yogurt and then try to "save" it? When you came back it was all slimy and gross... and that's all thanks to enzymes. There are enzymes in our saliva too... in fact, one of them is amylase. Think of amylase as the Bruce Wayne to glucoamylase's Batman. They are very nearly the same, but just a little bit different.
Getting back to the pancreas- its job is to make all these different enzymes. It makes each enzyme separately, and then combines them all together into something that every overindulgent newly 21-year-old is far too familiar with: yep that's Bile. The pancreas, as we recall from 4th grade science, is made of Cells. Each cell has a different job, but many of them are tasked with making enzymes, and each enzyme-making cell only specializes in one particular enzyme. Of course, there are lots and lots of cells that are tasked with the same enzyme, so that there is enough. In order to do that, that cell needs to have the materials, and also have the instructions.
No one is completely sure, but we think that in Glucoamylase Deficiency there was a disastrous incident at the local Kinkos during the dna/baby making process, and the instructions that tell each cell how to make Glucoamylase were, for lack of a better term, all f'ed up. Some cells still muddle through, and sometimes they can mange to make a little glucoamylase. Sometimes there are a few renegade cells make a pretty wonky version of glucoamylase (which, in its wonky-ness, it totally useless) but most of the cells see the f'ed up instructions and say "to hell with it, I'm going to lunch".
The end result is that there either aren't enough cells making glucoamylase, or they just make it v-e-r-y s-lo-w-l-y. Either way, there isn't enough.
Why does this matter?
Well, there are two reasons. First, our bodies are cool and all, but most of our cells (especially our brains) are damn picky. They can only use glucose.
Glucose can come from a couple of places. One is, well, glucose. Found in your handy-dandy piece of fruit or candy necklace, you find it anywhere your sweet tooth is happy. All by itself, it's called a mono-saccharide (one-sugar). However, just like that weird gnome that is always on vacation somewhere, most of the time glucose doesn't like to roam the food pyramid alone. Sometime it'll hook up with fructose and boom! Common table sugar, or "sucrose". Sometimes it will just find another glucose buddy to bond with and boom! One of our nemesis... maltose. All of those are di-saccachrides (two-sugars). But sometimes it won't just hook up with one friend, but they'll have a block party and form a crazy conga line down the street. Then you've got a poly-saccharide (many-sugar), also known as our other dietary nemesis...starch.
Those enzymes that we talked about earlier? They kinda work like the little pull-tab thingy on a zipper to break apart the sugar molecules until glucose is all alone and yummy yummy cell-food. The cells can't use it if it's all hooked up and having a good old time with its buddies. Just like cheap beer is the fuel for every college party, glucose- and glucose that is all alone and not hooked up with anything else- is the only fuel for the little party that the cells like to call the Krebs Cycle.
So anyway. Because the enzyme-making cells are all f'ed up or out to lunch, all the starch or maltose just hangs out in the tummy irritating the intestines (making it harder for all the other good stuff to be absorbed), and is generally useless. Except to the bacteria that we all have in our Guts, of course. It like a bacteria buffet, and they chomp it up as fast as they can replicate. And when they're done? Gas. And bloating. And on and on... we all know the symptoms of Starchy Tummy are pretty miserable.
And this, in a nutshell, is what (and how and why) there is this thing called Pancreatic Glucoamylase Deficiency. Or Maltase-Glucoamylase Deficiency. Or, as we like to say because mono-syllabic words are way easier (yay Regular English!)... Sharky's "Starch Problem".
