IMPORTANT DISCLAIMER: These handouts are based on emerging research and mechanistic reasoning from animal/cell models. No MAND-specific clinical testing guidelines currently exist. This framework is hypothetical but grounded in published molecular data (Meguro-Horike et al., BBRC 2026; Tao et al., Br J Haematol 2014; Du et al., PLoS One 2012).
I’m a dietitian with a child who has MAND, but I’m not your child’s dietitian. Although our children share this genetic syndrome, our families have intrinsic genetic differences. We are all individuals, and because of this, not all children with MAND will have the same metabolic or nutritional issues. The testing below could help figure out where your child’s nutrition deficiencies lie and how to support overall energy metabolism. (Scroll to the very bottom to read my personal opinion on WHEN to test. Not all doctors are willing to run testing.)
The big picture: We all feel like we are running this race blind folded. There isn’t a manual on how to care for a child with MAND like there is for other syndromes. We don’t have a clinical location as of yet that specializes in MAND. If we, as parents, can rally together to get our physicians to run the tests below, we may see a trend and be able to contribute to a future “MBD5 parent manual” that can help other children born with MAND in the future. In fact, I volunteer to do the data collection if anyone is interested.
Your child and my child may be suffering, but by gathering information, we can put a purpose in their suffering by clarifying the metabolic effects of this syndrome and potentially find a way to reduce their suffering and maximize their health and happiness.
“There have been some hard things in my life, of course, as there have been in yours, and I cannot say to you, I know exactly what you’re going through. But I can say that I know the One who knows. And I’ve come to see that it’s through the deepest suffering that God has taught me the deepest lessons. And if we’ll trust Him for it, we can come through to the unshakable assurance that He’s in charge. He has a loving purpose. And He can transform something terrible into something wonderful. Suffering is never for nothing” – Elisabeth Elliot
Let’s work as a team and actively transform something that on some days seems “terrible” into something “wonderful”. Suffering should not be for nothing. – Meredith Arthur, MS, RD, LD
“My doctor will NEVER order all these tests.” This is most likely true, and also disheartening, but that doesn’t mean you can’t work on nutrition.
One very easy and FREE thing to do that doesn’t take too much effort is to record your child’s nutrient intake with an app called “Cronometer“. Put the whole food versions of what they eat. For example, if they like chicken nuggets, don’t use the Tyson brand name, just search for chicken nuggets. You want the foods that say when you click on them, “85 nutrients listed”. Then you can see a summary of the day and all the nutrients your child needs. The very first place to start is to look at diet. I did this with Zoey first (and re-evaluate every so often to make sure we are on track for meeting needs), but then she was still seemingly worsening in health, and so I thought something was going on with absorption or utilization of nutrients.
The human body requires nutrition to stay vibrant and healthy.
Once I confirmed that Zoey was indeed getting good nutrition, I realized something was NOT right. (I’m a dietitian, but Zoey likes her favorite foods, and life is about enjoying food and not just eating to meet nutrition needs, so sometimes her diet isn’t ideal! hahaha!) Let me say this, though: if you don’t or can’t do any testing for your child, you aren’t a bad parent. I don’t want this post to be that I’m calling out people who don’t test. It’s not. It’s just sharing that our kids could be feeling worse from basic nutrition problems that occur in ALL humans.
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It is hard to get doctors to test for much. Many times, if they can’t interpret a test, they won’t test at all. I totally understand that. They also have to put in a diagnosis code for every test ordered. I typically recommend “failure to thrive” or “malnutrition” as the code, as Zoey is not even on the growth chart (short stature). Once, I asked a GI doctor to run the plasma amino acid test because I thought that Zoey might be struggling with amino acid metabolism or absorption. He said he doesn’t read those tests and couldn’t advise me on them. I said that as a dietitian who works in metabolism, I could read the test. He said he couldn’t order it for me as a dietitian because I’m not on his staff.
However, I can order my own labs for my daughter from various places because we live in the US. In the US, I can order many things through Ulta Labs, Quest, or Lab Corp without a doctor’s order, but this means I have to pay out of my own pocket. I only do this when I feel like Zoey’s worsening from just dysfunction to disease.
This past year, she did just that. She worsened to a point that the doctor wanted to start a medicine that I knew would make her worse overall because of her own health circumstances. She wanted to start gabapentin for nerve pain. I wanted to know what the underlying nutrition issues were because she didn’t have that issue before.
Zoey was complaining of burning feet and hands. She would sign “hot” and indicate her feet and hands. She was also extremely lethargic. I talked with neurology, and they said, “We can start gabapentin.” I said, “But I want to know the cause of her burning hands and feet, can you do an EMG to see if it’s neuropathy vs something else?” She said she doesn’t look for causes of never pain in kids, but that we just start mediation. However, when I researched the side effects of gabapentin, I found it would further sedate Zoey, and one of her problems is sleep apnea from low tone. She is noncompliant with CPAP. So, this would worsen her oxygen status, which I believe was a contributor to her fatigue and her burning sensations.
If my child is worsening, it could be nutrition-related and not MBD5 “progression”.
Also, I find that most mainstream doctors are treating DISEASE, not DYSFUNCTION, and preventing death, not encouraging a FULL LIFE. This is a noble cause. They aren’t horrible for preventing death and treating disease. This is a needed service.
However, I think that to have a full life, if a child is extremely fatigued, finding out the dysfunction and treating it will improve the quality of life and happiness. I just have a totally different goal than most of Zoey’s doctors, but not ALL of them. We have a few on our team that truly feel the same. A child with a syndrome should not be suffering if they don’t have to, and they should be thriving.
In regards to the diagnosis of new onset neuropathy and plan for gabapentin without testing, I decided it was time for me to pay out of pocket for testing. I ordered a plasma amino acid test and an organic acid test from Diagnostic Laboratories for Zoey on my own. It was $270 plus a $50 local lab fee. That’s a bunch of money for our family, typically, but I had been blessed with a well-paying part-time job during that time and was able to pay for it out of pocket.
From my own knowledge base and research, I found that having hypoxia in the gut (sleep apnea causes this) can decrease the absorption of B6 and B1 from the gut by decreasing the transporter levels (the bacterial toxin LPS from “bad bacteria” can do a similar thing to B1 and B6 absorption). The transporter that absorbs B1 also absorbs B6. Both B1 and B6 deficiency can cause neuropathy. However, I didn’t want to start her on these unless that was the true problem, because other causes of neuropathy exist!
Nutrition-related causes of neuropathy:
1. B1 deficiency
2. B6 deficiency
3. B12 deficiency
4. Vitamin E deficiency
5. Copper deficiency
6. Folate deficiency
7. B3 deficiency
8. B5 deficiency
9. Biotin deficiency
The testing I did (OMX -diagnostic solutions) showed me that the main issue was B6 deficiency inside the cells, causing Zoey’s neuropathy. It also showed me that Zoey is in a catabolic state and using up amino acids to try to increase energy production. It showed she didn’t have an intracellular B12 deficiency. Her ability to make her own NAD (B3) was low, so she needed that as well. She didn’t have a biotin deficiency. It also found a problem with high d-lactate, which explains her extreme sensitivity to dietary oxalate (oxalate inhibits D-lactate dehydrogenase). When d-lactate increases, it can cause dizziness and encephalopathy (slow brain waves), which Zoey has! So, it was a very informative test.
Why OMX? You can probably see that I decided to do the organic acid test + plasma amino acid testing is that it would give me the most information for the lowest cost about many different nutrition-related pathways. I have done this two times before when Zoey was struggling with health and had worsened, and I had heard the phrase, “Kids with syndromes just go downhill faster than kids without syndromes.” This is my trigger phrase. It’s when I start researching and thinking.
No child should “go downhill faster” without being thoroughly investigated. I have been the dietitian for genetically boring children AND adults who turned out to have severe gut dysbiosis, altering their nutrient absorption and metabolism, who responded to treatment and came back to a full, vibrant life. Our kids deserve the same careful consideration
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This post is NOT meant to treat or diagnose a condition. It is meant to educate to help you advocate for your loved one. I am not your dietitian nor your doctor. Please consult with your doctor or your child’s doctor before making any changes to your diet, nutrition, medications, or lifestyle.
