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

  1. Whole Exome Sequencing 
  2. Single Gene Analysis
  3. Urine Biomarker Screen

Some common differential diagnoses are:

  • Allgrove Syndrome (AAA Syndrome)
  • 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)
  • Specific 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

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

Diagnostic Testing

Genetic testing is available at:

Urine testing for oligosaccharides can also help diagnose NGLY1 Deficiency.

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Gene Reviews