Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency

Brian Pfeiffer, Kuntal Sen, Shagun Kaur, Kara Pappas

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Case We are reporting the third unrelated case of cerebral aspartate-glutamate carrier isoform 1 (AGC1) deficiency. Patient is a 21-month-old Yemeni male who presented with refractory seizure disorder and developmental arrest. Neuroimaging showed cerebral volume loss and diminished N-acetylaspartate (NAA) peak. Whole exome sequencing revealed a homozygous novel missense variant in the SLC25A12 gene. Patient's seizure frequency abated drastically following initiation of ketogenic diet. Discussion and Conclusion Cerebral AGC1 deficiency results in dysfunction of mitochondrial malate aspartate shuttle, thereby prohibiting myelin synthesis. There are significant phenotypic commonalities between our patient and previously reported cases including intractable epilepsy, psychomotor delay, cerebral atrophy, and diminished NAA peak. Our report also provides evidence regarding beneficial effect of ketogenic diet in this rare neurometabolic epilepsy.

Original languageEnglish
Pages (from-to)160-163
Number of pages4
Issue number2
StatePublished - Apr 1 2020


  • SLC25A12
  • aspartate-glutamate carrier
  • ketogenic diet
  • whole exome sequencing


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