Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults

D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement. We report two siblings with D2HGA1 presenting with mild intellectual disability, and the onset of seizu...

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Published inAnnals of clinical and translational neurology Vol. 7; no. 10; pp. 2052 - 2056
Main Authors Tabarestani, Sepideh, Varriano, Brenda, Rawal, Sapna, France Morel, Chantal, Carmela Tartaglia, Maria, Andrade, Danielle M.
Format Journal Article
LanguageEnglish
Published Bognor Regis John Wiley & Sons, Inc 01.10.2020
John Wiley and Sons Inc
Wiley
Subjects
Activities of daily living
Age
Atrophy
Blood clots
Calcification
Case Study
Convulsions & seizures
Cysts
Dementia
Families & family life
Intellectual disabilities
Metabolism
Patients
Posture
Tuberous sclerosis
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Summary:D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement. We report two siblings with D2HGA1 presenting with mild intellectual disability, and the onset of seizures in adulthood. One of them was misdiagnosed as tuberous sclerosis due to her presentation and the presence of subependymal nodules on brain imaging. Both further developed early onset dementia. This report expands the phenotype of D2HGA1 to include late‐onset seizures and early onset dementia in adults.
Bibliography:These authors contributed equally to this work.
DA received McLaughlin Centre and EpLink funding. EpLink is the Epilepsy Research Program of the Ontario Brain Institute (OBI). The OBI is an independent nonprofit corporation, funded partially by the Ontario government. The opinions, results, and conclusions are those of the authors’ and no endorsement by EpLink or OBI is intended or should be inferred. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Funding Information
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.51162