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Congenital disorders of glycosylation and infantile epilepsy

Hsiu-Fen Lee1, Ching-Shiang Chi2

  • 1Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, 145, Xingda Rd., Taichung 402, Taiwan; Division of Pediatric Neurology, Children's Medical Center, Taichung Veterans General Hospital, 1650, Taiwan Boulevard Sec. 4, Taichung 407, Taiwan.

Epilepsy & Behavior : E&B
|April 22, 2023
PubMed

Insights

Congenital disorders of glycosylation (CDG) are rare genetic conditions affecting protein and lipid pathways. This review highlights CDG-related epilepsy in infants and proposes early diagnostic strategies for families.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Congenital disorders of glycosylation (CDG) are rare inherited metabolic diseases impacting protein and lipid glycosylation.
  • These disorders typically manifest in infancy with a range of symptoms.
  • Epilepsy is a frequent and often initial symptom in individuals with CDG.

Purpose of the Study:

  • To review the clinical and electroencephalographic features of epilepsy in CDG.
  • To provide a systematic approach for earlier diagnosis of CDG in infants with epilepsy.
  • To discuss genetic counseling implications for families affected by CDG.

Main Methods:

  • Literature review of CDG and infantile epilepsy.
  • Analysis of clinical manifestations and EEG findings.
  • Development of a tiered diagnostic strategy.

Main Results:

  • CDG-associated epilepsies often present in infancy, are frequently drug-resistant, and commonly comorbid with developmental and behavioral issues.
  • Specific clinical and EEG patterns can suggest CDG in infants with epilepsy.
  • Early identification facilitates timely intervention and genetic counseling.

Conclusions:

  • Infantile epilepsy is a significant manifestation of CDG, necessitating early recognition.
  • A structured diagnostic approach can improve the identification of CDG.
  • Prompt diagnosis and genetic counseling are crucial for managing CDG and supporting affected families.

Keywords:
Congenital disorders of glycosylationEpilepsyInfants

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