What are the symptoms of NKH in babies and children?

Symptoms of nonketotic hyperglycinemia usually appear in the first days of life. A newborn may seem unusually sleepy and hard to wake, feed poorly, have very low muscle tone, hiccup frequently, or have pauses in breathing. In the severe form this can progress quickly and become life-threatening.

As children grow, the most common challenges are seizures that resist medication, muscle stiffness (spasticity), feeding problems that often require a feeding tube, and significant developmental delays. Many children with severe NKH are nonverbal and cannot sit or move on their own. Breathing and infections can become serious concerns.

Drake seemed healthy when he came home from the hospital in October 2016, but within a few days he became lethargic and was transferred to a pediatric ICU. In his early months he had as many as 200 seizures a day. Vivian lives with an extreme startle reflex that can be triggered by a tiny sound, and in 2026 she has endured months of difficult nights.

If you're worried about a baby, talk to a pediatrician right away; this page isn't medical advice. If you'd like to stand with a family living this every day, here's how you can help.

Sources: MedlinePlus Genetics: Nonketotic hyperglycinemia · GeneReviews (NCBI): Nonketotic Hyperglycinemia · NORD: Nonketotic Hyperglycinemia