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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Lookup NU author(s): Dr Ana TopfORCiD, Professor Hanns Lochmuller, Professor Rita HorvathORCiD


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© 2020 The Japanese Society of Child Neurology. Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Case: Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. Results: We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. Conclusion: Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.

Publication metadata

Author(s): Paketci C, Edem P, Hiz S, Sonmezler E, Soydemir D, Sarikaya Uzan G, Oktay Y, O'Heir E, Beltran S, Laurie S, Topf A, Lochmuller H, Horvath R, Yis U

Publication type: Article

Publication status: Published

Journal: Brain and Development

Year: 2020

Volume: 42

Issue: 7

Pages: 539-545

Print publication date: 01/08/2020

Online publication date: 07/05/2020

Acceptance date: 19/04/2020

ISSN (print): 0387-7604

ISSN (electronic): 1872-7131

Publisher: Elsevier BV


DOI: 10.1016/j.braindev.2020.04.008

PubMed id: 32389449


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