When a newborn shows signs like extreme sleepiness, low muscle tone, or seizures, doctors run metabolic tests. In nonketotic hyperglycinemia, glycine levels are high in the blood and especially high in the cerebrospinal fluid, the fluid around the brain and spinal cord. A high ratio of glycine in that fluid compared to blood is one of the strongest clues.
The diagnosis is then confirmed with genetic testing, which looks for disease-causing variants in the GLDC or AMT genes. Brain imaging (MRI) and an EEG may also be part of the workup. Once a family's specific variants are known, genetic counseling can help parents understand the chances for future pregnancies.
Drake spent 28 days in the pediatric ICU in Greenville, South Carolina, and was diagnosed at about two weeks old. When Vivian was born in 2019, her parents and doctors knew what to look for, and she was diagnosed within hours.
Diagnosis is just the beginning for a family. If you know a family who has just heard the word "NKH," the Drake Rayden Foundation exists in part to care for special needs families. Reach out at Info@DrakeRaydenFoundation.com.
Sources: GeneReviews (NCBI): Nonketotic Hyperglycinemia · MedlinePlus Genetics: Nonketotic hyperglycinemia
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