What is Nonketotic Hyperglycinemia [NKH]?

Non ketotic Hyperglycinemia (NKH) is a rare and still incurable metabolic disease affecting less than 200 children nationwide and less than 500 children worldwide. NKH is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in the blood, urine, and particularly the cerebrospinal fluid (CSF).

Children affected with this disease are missing the enzyme that breaks down glycine. This buildup of glycine in the brain and CSF cause neurological impairment which is seen almost immediately after birth. The prognosis is poor and most patients die in the first few weeks of life. Those who survive have intractable seizures and poor neurodevelopmental outcomes. NKH has a wide spectrum of severity ranging from the most severe cases leading to an early death to a more rare and mild form of the disease leading to mild intellectual and developmental disabilities.

Some progress has been made over the last decade for better treatment options but no cure has been found. A few medications have been found to help with the symptoms although these medications must be started early in life to show any benefit. At the present time, the best that can be hoped for most NKH children is simply to employ comfort measures along with other medications as they become available. With your help, we can change this. We can work to find even better treatment options, earlier diagnosis, and that in the near future, this terribly sad disease will be wiped out completely!