The symptoms and features of NGLY1 Deficiency may include:

Physical Symptoms

  • Overall hypotonia/low tone as well as tightness/contractures in ankles and wrists.
  • Complex hyperkinetic movement disorder which makes it difficult for the patients to walk, sit, feed themselves etc. More severe when younger.
  • Lack of tears as most patients have very dry eyes resulting in bad eye infections when not properly taken care of.
  • Smaller head (microcephaly)
  • Lack of sweat which makes it difficult for patients to regulate their body temperature in warm weather.
  • Difficulty with swallowing causing aspiration
  • Small feet and hands
  • Cerebral visual impairment (CVI)

Clinical Symptoms

  • Liver dysfunction:  Patients present with elevated liver transaminases such as AST, ALT and sometimes AFP. Liver values may trend toward the normal range over time.
  • Low protein in urine and CSF

For more information

Gene Reviews

Neurologic Symptoms

  • Global developmental delay
    • Difficulty with or unable to walk
    • Most are non-verbal
    • Test significantly below average on cognitive skills tests
  • Diminished reflexes
  • Seizures
    • Common seizure types include sudden jerks or startles (myoclonic), drops (atonic) and staring spells (absence).
    • Seizures are generally multi-focal.
    • Patient EEGs are often described as “abnormal.”
  • Peripheral neuropathy with additional demyelinative features in some patients
  • Auditory Neuropathy:  Many patients show abnormal findings on auditory brainstem response (ABR).  Their ears function normally, but the processing of the sound in the brain is abnormal.
  • Sleep disorders:
    • Many patients show a disturbed sleep pattern, especially at a young age.
    • Apnea: Many have been diagnosed with obstructive and/or central sleep apnea.