In the past, NGLY1 Deficiency typically has been diagnosed through:
- Whole Exome Sequencing
- Single Gene Analysis
- 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.
