Table 4.

Serine Deficiency Disorders: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Epilepsy
  • See Targeted Therapy w/ L-serine.
  • Standardized treatment w/ASM by experienced neurologist
  • Treatment w/ASM may not be required after adequate response to L-serine therapy.
  • Many ASMs may prove to be ineffective; none has been demonstrated effective specifically for this disorder, except L-serine therapy.
  • Education of parents/caregivers 1
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Poor weight gain
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Cataracts Treatment per ophthalmologist
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Polyneuropathy Eval by neurologist w/experience in neuromuscular diseasesLikely need adaptations for proper daily functioning & mgmt by physical medicine & rehab / PT & OT
Dental issues w/L-serine oral therapy Preventative dental careThere appears to be ↑ risk for dental caries in persons treated w/oral L-serine powder.
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.
  • Provide family support in transition to adult care.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics for persons w/milder or adult-onset phenotypes.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

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: Serine Deficiency Disorders

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.