MSUD: Diagnosis and Management (Nursing)

00:01 If we suspect Maple Syrup Urine Disease, there can be a prenatal diagnosis and we can get amniotic fluid to attain that.

00:09 After the baby's born, if there's a high suspicion for this disease, we can do some mutational analysis, or if the infant starts to show signs and symptoms, we can get plasma and check amino acid analysis.

00:24 So it can be readily detected.

00:26 And it's important to note that like some of the other inborn errors that patients might be symptomatic before you get these blood tests back.

00:36 So we can send the plasma amino acids, the urine organic acids and the urine ketones, and that will give us some information before we get the more specific testing or the genetic testing back.

00:50 Now, in some testing instances, if the patient has a very mild form of Maple Syrup Urine Disease, we might not pick anything up.

00:58 So we need to be really attuned to those signs and symptoms, and it's possible that we may need to retest that child later.

01:06 So any newborn, infant, or child that presents with encephalopathy and ketoacidosis, we really should be suspecting something like a Maple Syrup Urine Disease.

01:18 And if you remember in previous presentations, ketoacidosis, we normally think about this in terms of a patient being diabetic.

01:26 So if we have an infant that comes to us with a ketoacidosis, meaning the ketones are high in their body, and their blood is very acidic, but they don't have high glucose or any of the other lab values that make us suspect that diabetes would be the cause then we really need to think about Maple Syrup Urine Disease.

01:49 So measurement of plasma amino acid concentrations really are gonna demonstrate those levels of the BCAAs and the leucine, isoleucine, and valine.

01:59 So we can keep track of all of these in our patients.

02:04 And how do we manage this? So the primary aspect as with many of the inborn errors is going to be dietary therapy and dietary management.

02:14 We really wanted to tried to promote normal growth and development.

02:17 And then if they're having any kind of metabolic emergency, we're going to do aggressive treatment of those episodes.

02:25 So inexperienced metabolic disease specialists and a metabolic dietitian should be involved in the management of these patients.

02:35 What are the goals of therapy for these patients? So we really want to reduce those toxic metabolites.

02:41 We want to have plasma concentrations of these amino acids, because amino acids are the building blocks in the body.

02:49 We want to support normal growth.

02:52 And we want to preserve intellectual function and development.

02:56 And how are we going to do this? So we're going to restrict the intake of these BCAAs.

03:03 So most commercial formulas are pretty high in those substances, but we can get medical diets that are going to restrict these.

03:11 But you also want to provide some sufficient calories and fluids to maintain that metabolic homeostasis, meaning that the body has enough energy to do the work that it needs to do.

03:24 We may need to provide valine and isoleucine supplementation because the patient is still going to need some of those building blocks in their body.

03:34 And then that dietary restriction really needs to be maintained throughout life.

03:38 So working with that metabolic dietitian is going to be really important.

03:44 We're going to monitor to see if this management is working correctly, by measuring those plasma amino acid concentrations.

03:53 And when the infant is very young, and we're still trying to figure out how to manage this, we're going to be measuring those amino acids fairly often.

04:02 So every one to two weeks for the first six to 12 months of life.

04:06 And then monthly thereafter.

04:08 We're also going to be watching the intake of the leucine, and valine, and isoleucine.

04:14 And this is going to be adjusted for the individual patient.

04:17 So we can measure those levels in the blood and we can make sure that the levels are working for that patient.

04:24 And then as the child gets older, we can start spacing out these measurements so that they're not having to come back to the hospital as frequently for these lab draws.

04:35 So what happens if we have a metabolic decompensation? We really, really need to treat these episodes aggressively.

04:42 We need to be providing a lot of caloric support, because your metabolism needs a lot of energy to really be able to be functional.

04:50 And so you're going to be providing at least 1.25 times what you think the child needs in energy requirements.

04:58 Often we're going to be doing really aggressive fluid resuscitation.

05:02 This can force a lot of diuresis.

05:04 And as we know, the kidneys really filter out a lot of these substances in our bodies.

05:09 So this can help us detoxify a little bit.

05:12 And then the goal is really to drop the levels of leucine in the plasma.

05:16 So, if it's gotten too high, remember, we kind of have to hit that sweet spot.

05:20 We need a little bit of these amino acids because they are the building blocks.

05:24 But we don't want to let that level get too high.

05:27 So the fluid resuscitation can really help drop those levels.

05:31 And and we can flush that out of the body.

05:35 What kind of outcomes might we see in a patient that has Maple Syrup Urine Disease? So normal functioning is possible.

05:42 Cognitive outcomes really appear to be related to that plasma loosing concentration.

05:48 So if those levels are creeping up, then we need to be making dietary changes.

05:53 The best outcomes begin in those who begin therapy early.

05:57 So the earlier we catch it, the better the cognitive function of these patients is going to be.

06:04 So let's use the clinical judgment model to walk through this Maple Syrup Urine Disease.

06:11 First, we need to recognize the cues that might tip us off that we have this going on.

06:17 So if you have a patient that presents with psychomotor delay, some feeding problems, and that really Hallmark Maple syrup urine odor to the urine, you're going to suspect that it's Maple Syrup Urine Disease.

06:30 The Classic Maple Syrup Urine Disease is going to give you a lot of neurologic symptoms, and they might even present with this metabolic shock.

06:41 Now, how do we analyze those cues? Well, we're really going to be doing that by sending off laboratory exams to make sure that we can diagnose the correct inborn error of metabolism.

06:53 In this case that can be done prenatally, or it can be done after the baby is born.

07:00 And then finally, once we have the diagnosis of Maple Syrup Urine Disease, it's going to be lifelong dietary therapy and aggressive treatment of any episodes of acute metabolic decompensation.

07:13 So, as you think through the clinical judgment model, remember, there are several steps that help us refine our treatment of our patients.

07:21 And we really have just highlighted a few of those steps to help you out today.