Diagnosis

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:

• Emory University
• Baylor University
• Invitae
• GeneDX

Urine testing for oligosaccharides can also help diagnose NGLY1 Deficiency.

For more information, please email us at info@ngly1.org.

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