00:01
Okay, in honor and also this question, let's talk about this newborn girl.
00:05
It says that she appeared normal at birth.
00:07
Okay, so if she is normal at birth, okay, if she's normal at birth, then it means that she was being breastfed, okay? and it means she is not in fasting state because, for example, it would be, or it is very unlikely, unlikely that she was in fasting state, okay? remember that in fasting state, she is going to use, i don't know, some glycogen storage or also fatty acids, metabolism in order to produce atp.
00:47
It says, but within 24 hours she developed lethargy, hypothermia, and apnea.
00:53
The attending physician suspects a metabolic disorder and orders a panel of labs.
00:58
And it says, which the diagnostic will be the best distinction between a gyrocycle disorder and a disorder in beta oxidation? remember that a beta oxidation problem is a problem in order to produce fatty acids or metabolite fatty acids in order to produce atp, because it is a beta oxidation process.
01:20
And uracicle disorder is a problem in the uricycle that is going to be responsible to produce urea.
01:27
Option is is glucose.
01:30
And this is not the answer because glucose, a good test for glucose if, for example, if for example, for example, the patient will have a history of fasting state in the patient.
01:42
So we look or we are thinking that the patient was in fasting state, but this is very unlikely because this baby is within 24 hours that she was born, then it's very unlikely that she was in fasting state.
01:58
When we think that the patient was in fasting state and then suddenly after a prolonged fasting state she develops like lethargy and hypothermia and all of that we may be thinking about that there is a problem in glucose or glycogen breakdown or in order or practically in general about glucose regulation okay but this is not a case and this is why we are not going to order glucose in this case now option b says urinary acids urinary acids.
02:33
Well, when we see this urinary acids, urinary acids, we may think about dicharboxylic acids, for example, dicharboxylic acids, that is a result of a problem in beta oxidation.
02:47
But if there is a problem in beta oxidation, it would mean that we are not getting enough, for example, enough breastfeeding, but as this patient is being breastfed, then this baby is not going to be using too many fatty acids or it is not going to break too much fatty acids in order to produce atp because it is obtaining all the atp from the milk.
03:11
And what about organic acedemia? well, organic acidias are practically abnormal metabolism of organic acids.
03:18
For example, propionic acid, methyl, methyl, melancholonic acid.
03:22
Okay, and they are going to build up of organic acids in blood and also in urine.
03:28
But the onset of organic acedemia is in the newborn period, especially in weeks to months.
03:34
Okay, and there is poor feeding, vomiting, hypotonia, and lethargy, okay? and there is also hypoglycemia and ketosis.
03:43
So particularly, it is not going to happen as soon as it is happening here in this baby that there is in the first 24 hours of life.
03:51
So this is not the answer neither.
03:53
Then we have option c that says serum fatty acids.
03:59
Okay, so this is not a problem of fatty acids because and this patient is being breastfed, so she's going to get all the nutrients necessary for atp synthesis from the milk.
04:13
It means proteins and also carbohydrates that are going to be the main source of energy for this baby.
04:19
So we're not going to think about a fatty acid problem here.
04:23
So this is not the answer either.
04:25
And option this is glutamine.
04:28
Okay, so glutamine, because all of them, of all of the other answers are not then glutamine is going to be the answer and this is true because when we measure glutamine is an amino acid and this amino acid glutamine is going to be converted to glutamate this glutamate is going to go to the liver and this is going to be converted back to glutamine i'm sorry glutamate is going to be converted to glutamine this is glutamine and this is glutamine okay this glutamine is going to get converted back to glutamate in the liver okay in the liver and this glutamate is going to produce practically alpha kiloglotterate and also this molecule here, there is ammonia and if this is going to enter the uricycle.
05:17
So if there is, for example, a deficiency of an enzyme in the ura cycle, this process is going to be inhibited and there is going to be accumulation of this, enhanced accumulation of this, and hence accumulation of this.
05:28
It means there is going to be high levels of glutamine if there is a problem in the ura cycle.
05:32
So it is going to be very useful for us to distinguish between a neural algebra.
05:36
Eurocycle disorder and also a beta oxidation problem.
05:40
So option d is the answer for this question.
05:42
Then it says, it says that a full blood work was ordered for this female and the data is presented below...