Nutrition and Metabolism Related Laboratory Assessment for Individuals with MBD5 Associated Neurodevelopmental Disorder.

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).

The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice – PubMed

Haploinsufficiency of MBD5 and MBD6 impairs mitochondrial respiration through chromatin-mediated gene regulation – PubMed

MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice – PubMed

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.

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