NON KETOTIC HYPERGLYCINEMIA

Non-ketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). Because glycine is not broken down, it accumulates in the body. Glycine is an important molecule in the brain where it has various functions such as transmitting signals from one brain cell to another. Excessive glycine disrupts the function of the brain.

Typical symptoms include seizures, low tone, and severe problems with learning and development. This can profoundly affect a child’s ability to learn and to do normal things such as eating, sitting, and walking.

The diagnosis is based on an analysis of amino acids in plasma and cerebrospinal fluid in order to quantify the increase in glycine.

Why Nutrition Management important?

In some forms of NKH, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition and can increase the quality of life of affected patients.

The treatment includes protein restriction and to provide vitamins (folic acid and pyridoxine to stimulate the glycine cleavage system complex).

The diet is specific to each infant depending on the severity of the condition, age, growth rate and the result of diagnostic reports. Consult a dietician to fine-tune your child’s diet over time.

Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.