Table 5.

Aspartylglucosaminuria: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Behavioral manifestations /
Sleep issues 		Standardized treatment w/combination of behavioral therapy & psychopharmacology w/experienced providersNo specific therapies or medications have been proven more effective in this population.
Dental Routine dental care
Recurrent infections Eval for ear myringotomy, adenoidectomy, or tonsillectomy w/experienced ENT specialistMany persons require repeated ear myringotomy in early childhood.
Musculoskeletal manifestations Mgmt of scoliosis as per orthopedist
Standardized mgmt of joint swelling & mobility problemsNo specific agents have been proven more effective in this population.
Mgmt of osteoporosis per endocrinologistStandard treatments may be used (e.g., bisphosphonates).
Gastrointestinal manifestations Standardized mgmt of diarrhea or constipation by experienced primary care or GI specialistNo specific agents have been proven more effective in this population.
Neutropenia/
Thrombocytopenia 		Typically no treatment required
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; ENT = ears, nose, and throat; GI = gastrointestinal

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Aspartylglucosaminuria

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