Table 3.

Recommended Evaluations Following Initial Diagnosis of NGLY1-CDDG

System/ConcernEvaluationComment
Eyes Ophthalmologic eval for hypolacrima & retinal disease
ENT/Mouth Auditory brain stem evoked potentials
Respiratory Sleep studyIf review of systems reveals snoring or symptoms concerning for sleep apnea
Gastrointestinal Nutrition eval to optimize intakeFeeding & swallowing eval if indicated
  • Transaminase levels
  • Eval for constipation
Consultation w/gastroenterologist or hepatologist as needed
Musculoskeletal Radiologic & orthopedic assessment incl DXA scanTo evaluate bone health & help manage scoliosis, coxa valga, &/or contractures
Skin QSWEAT analysis to evaluate for hypohydrosis
Neurologic
  • Neurologic & neurodevelopmental eval of cognitive abilities
  • Nerve conduction study
Endocrinologic Vitamin D levelTo assess for vitamin D deficiency
Hematologic/
Lymphatic 		Protein C; factor II, IX, XI; fibrinogen levelsConsultation w/hematologist if abnormal
Miscellaneous/
Other 		Speech & language evalReferral to speech therapist if indicated
Rehabilitation team evalReferral for OT &/or PT if indicated
Consultation w/clinical geneticist &/or genetic counselor

DXA = dual-energy x-ray absorptiometry; OT = occupational therapy; PT = physical therapy

From: NGLY1-Related Congenital Disorder of Deglycosylation

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