Diagnostic Resources

By Dr. Greg Enns

Patients with signs and symptoms of NGLY1 Deficiency are often evaluated by specialists in Pediatric Neurology or Medical Genetics. Diagnosis of NGLY1 Deficiency can be made by performing a blood test for DNA analysis available at specialized laboratories, including Baylor Miraca Genetics Laboratories, Emory University, and Greenwood Genetic Center. A physician order is needed in order to have testing performed.

Once a diagnosis is established, depending on the specific needs of the individual patient other evaluations might be indicated. For example, NGLY1 patients are often followed by neurologists in order to manage seizures or abnormal movements. Because dry eyes are common, which can lead to corneal ulcerations and scarring, ophthalmology evaluations are also common. Liver disease may be prominent in early childhood, and patients may have other abdominal issues, such as constipation, so the involvement of a gastroenterologist may be beneficial. NGLY1 patients are also commonly followed by a clinical geneticist or clinical biochemical geneticist, given the underlying genetic etiology of this condition. Genetic counselors can offer families further information related to inheritance, genetic testing, further screening of family members, and prenatal counseling. Other services, including physical, occupational and speech therapies are commonly employed in order to maximize a child’s potential and quality of life.

There are a variety of resources available to families wanting to learn more about genetics and genetic conditions. Websites to explore include 1) Genetics Home Reference; 2) National Organization for Rare Disorders (NORD); and 3)  NIH National Human Genome Research Institute. Updated information on clinical trials may be found at:  https://www.clinicaltrials.gov/.