CPT 2 Deficiency Question
We had an infant (approx 9 mos old) that had become restless and the mother was en route to the Dr with it when it became unresponsive. By the time they had got to the nearest hospital it was DOA. This is the first time that any of us at the PD had heard of this, I was just wondering if you have ever had any dealings with it.
I have not personally dealt with this, but I have had adult patients with rare metabolic disorders on occasion. There are a zillion different types of genetic metabolic enzyme deficiency problems, and this is one of them. I read up a little to answer you, including the link that you sent, so this isn’t a medical explanation so much as a translation from medicalese to American English. I’m about to oversimplify, so if you are a medical person reading this, please bear with me.
A baby born with this deficiency cannot process fats properly, including fatty acids created by her own body. Your body uses glucose (sugar) for fuel. Glucose is quick energy and is required for brain function in particular. Because it is quick energy, you also use it up kind of fast, which is why you have to eat often rather than say, once a month.
If you haven’t eaten a meal for a while, your body uses fatty acids as fuel. Your body breaks them down into usable form with enzymes. If you are deficient in the enzyme you need to break the fatty acids down, your body and especially your brain will be starving for energy. An extremely low blood sugar can put you in a coma because your brain stops functioning. It has no fuel. That is what happens when you use up the glucose and can’t use the fatty acids.
Your brain and body don’t want you in a coma, so if there is no glucose and no breakdown of fatty acids, your body will start breaking down muscle tissue. Even on a cellular level you want to survive. So your body says the next thing to try eating is muscle, and basically starts shredding it into bits. This is called rhabdomyolysis. Rhabdo, as we lazy people call it, is not that uncommon as metabolic problems go. It can happen to marathon runners, and is an adverse effect of some cholesterol drugs. (Thus the warning about calling your health care provider if you have severe muscle pain, etc.)
When you start shredding muscle for energy, your body has trouble processing it. In an oversimplified manner of speaking the muscle fibers get stuck in your kidneys like pieces of yarn. Your pee turns red, your muscles are breaking down, and your kidneys start to fail because they are full of shredded muscle. Your brain still isn’t working right because you can’t metabolize all this crap properly and turn it into sugar to keep that brain fed.
The baby may have died from a super low blood sugar, or from kidney failure poisoning the body, or both. You can live a fairly normal life with this CPT 2 if you never have a crisis. But if the baby slept all night or went an extra long while between meals, her brain and/or kidneys may have just shut down and it may have happened too fast for anyone to realize what was happening. Parents don’t even always know if the baby has this deficiency. It can go undetected. It isn’t even known for sure how common the deficiency is, because it is not always diagnosed.
I hope that helped explain it for you. For everyone else, this is your link, and here is another that I found. Thanks for sending me the question! I always like to learn something new.
