what is nkh in babies

Nonketotic hyperglycinemia (NKH) is an inherited genetic condition that prevents a babys body from breaking down glycine, an amino acid that is one of the building blocks of proteins and also used as a neurotransmitter in the brain. This condition is also known as glycine encephalopathy. Babies with NKH typically have varying degrees of developmental delay and intellectual disability, and may experience seizures and extreme sleepiness. Signs of NKH are typically present shortly after birth, but in some cases, they may show up a little later in infancy. Newborn screening for NKH involves collecting a small amount of blood from the babys heel to measure the amount of glycine in the blood. If the screening result is out-of-range, the babys healthcare provider will contact the parents to discuss next steps and follow-up plans. Treatment for NKH involves supplements and medications, as well as occupational, physical, and speech therapies to help the child reach their full potential.