In the past, NGLY1 Deficiency typically has been diagnosed through:

  1. Whole Exome Sequencing or Whole Genome Sequencing
  2. Panel Screen / Exome Slice
  3. Enzyme Activity Testing
  4. NEW Urine Biomarker Screen

Some common differential diagnoses are:

  • Mitochondrial Disease
  • Congenital Disorders of Glycosylation
  • Rett-Syndrome
  • Lysosomal Storage Disorders
  • Cerebral Palsy

Strong Indicators of NGLY1 Deficiency:

  • Decreased protein and albumin in the cerebrospinal fluid (CSF)
  • Elevated oligosaccharides in urine have recently been discovered as unique biomarkers for NGLY1 Deficiency, offering hope for a much easier and cheaper way to a diagnosis.
  • Developmental delay
  • Lack of tears (alacrima or hypolacrima)
  • Abnormal EEG
  • High liver values in young children
  • Movement disorder

Diagnostic Testing

Genetic testing is available at:

Urine testing for oligosaccharides can also help diagnose NGLY1 Deficiency.

For more information, please email us at

The unique combination of these indicators of NGLY1 Deficiency (ICD E77.8) should prompt doctors to test for the disease.