Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia (NKH)
An Amino Acid Disorder

Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you.

What is it?
NKH, also known as glycine encephalopathy, is caused by an inadequate supply of an enzyme necessary to break down glycine in the body. This leads to abnormally high levels of glycine.

Inheritance and Frequency
The gene defect for NKH is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Signs & Symptoms
The most common form of NKH occurs in infants. It is characterized by delayed development, feeding difficulties and seizures in infancy.

Long Term Effects
Mental retardation and seizures may result from NKH.

Treatment

History
The occurrence rate of NKH worldwide is unknown. Limited studies suggest approximately 1 in 60,000 newborns is affected..

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Other Sites of Reference

Support Groups
Hope for NKH
765 141st Street S
Tacoma, WA 98444
Contact Person: Sarah Harris, President
Phone: (253) 219-7535

NKH International Family Network

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Revised 2/20/2008